Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene JAK2
Variant N612fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 N612fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 612 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org), N612fs is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 N612fs

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_004972.4
gDNA chr9:g.(5073754_5073755)
cDNA c.(1834_1833)
Protein p.N612fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322196 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322194 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322195 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_004972 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_004972.3 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK2 N612fs loss of function - predicted