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Gene MSH6
Variant A20V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 A20V does not lie within any known functional domains of the Msh6 protein (UniProt.org). A20V demonstrates proficient mismatch repair activity compared to wild-type protein in in vitro assays (PMID: 22102614, PMID: 31965077), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 A20V

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Transcript NM_000179.3
gDNA chr2:g.47783292C>T
cDNA c.59C>T
Protein p.A20V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001281492.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
XM_024452822.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281493 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281494 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_000179 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281492 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406811.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281494.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001281493.1 chr2:g.47798948C>T c.59C>T p.A20V RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47783292C>T c.59C>T p.A20V RefSeq GRCh38/hg38

Filtering

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  • 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
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Molecular Profile Protein Effect Treatment Approaches
MSH6 A20V unknown