FANCA R1084C
Gene Variant Detail

Request Content

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 FANCA
Variant R1084C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA R1084C lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). R1084C has been identified in sequencing studies (PMID: 30050716, PMID: 24755471, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA R1084C

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_000135.4
gDNA chr16:g.89748757G>A
cDNA c.3250C>T
Protein p.R1084C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
NM_001286167 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
XM_005256294 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89748757G>A c.3250C>T p.R1084C RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89748757G>A c.3250C>T p.R1084C 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References