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.G477D

c.1430G>A

Surrounding Variants

1 paper

NM_000179.3

p.G477A

c.1430G>C

1 paper

NM_000179.3

p.G477S

c.1429G>A

1 paper

NM_000179.3

p.G477R

c.1429G>C

1 paper

NM_000179.3

p.Y478fs

c.1432_1433fs

1 paper

NM_000179.3

p.G477insFs

c.1430dupG

1 paper

NM_000179.3

p.Y478C

c.1433A>G

1 paper

NM_000179.3

p.K479_V480delFs

c.1436_1440del5

2 papers

NM_000179.3

p.K476E

c.1426A>G

1 paper

NM_000179.3

p.K476fs

c.1426_1427fs

1 paper

NM_000179.3

p.K479Q

c.1435A>C

2 papers

NM_000179.3

p.K479_R482delFs

c.1437_1446del10

1 paper

NM_000179.3

p.Q475Q

c.1425G>A