Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.W970L

c.2909G>T

Surrounding Variants

10 papers

NM_000179.3

p.W970*

c.2909G>A

10 papers

NM_000179.3

p.W970*

c.2910G>A

1 paper

NM_000179.3

p.W970C

c.2910G>C

1 paper

NM_000179.3

p.W970C

c.2910G>T

1 paper

NM_000179.3

p.W970R

c.2908T>A

1 paper

NM_000179.3

p.W970R

c.2908T>C

1 paper

NM_000179.3

p.G971insFs

c.2913dupG

2 papers

NM_000179.3

p.W970delFs

c.2909delG

1 paper

NM_000179.3

p.G971R

c.2911G>A

1 paper

NM_000179.3

p.Y969Y

c.2907T>C

1 paper

NM_000179.3

p.Y969S

c.2906A>C

19 papers

NM_000179.3

p.Y969C

c.2906A>G