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.G460C

c.1378G>T

Surrounding Variants

2 papers

NM_000179.3

p.G460S

c.1378G>A

1 paper

NM_000179.3

p.G460D

c.1379G>A

2 papers

NM_000179.3

p.G460G

c.1380C>A

1 paper

NM_000179.3

p.S459Y

c.1376C>A

1 paper

NM_000179.3

p.F461insFs

c.1383dupT

1 paper

NM_000179.3

p.S459C

c.1376C>G

12 papers

NM_000179.3

p.S459F

c.1376C>T

1 paper

NM_000179.3

p.S459T

c.1375T>A

1 paper

NM_000179.3

p.P462T

c.1384C>A

2 papers

NM_000179.3

p.P462fs

c.1384_1385fs

1 paper

NM_000179.3

p.H458fs

c.1372_1373fs

4 papers

NM_000179.3

p.H458Y

c.1372C>T