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.S353fs

c.1057_1058fs

Surrounding Variants

1 paper

NM_000179.3

p.S353G

c.1057A>G

1 paper

NM_000179.3

p.S353N

c.1058G>A

2 papers

NM_000179.3

p.S353insFs

c.1059dupT

1 paper

NM_000179.3

p.S353insFs

c.1057dupA

1 paper

NM_000179.3

p.S353_G355delFs

c.1059_1063del5

3 papers

NM_000179.3

p.V352I

c.1054G>A

1 paper

NM_000179.3

p.G354fs

c.1060_1061fs

2 papers

NM_000179.3

p.G354fs

c.1060_1061fs

1 paper

NM_000179.3

p.V352fs

c.1054_1055fs

1 paper

NM_000179.3

p.H351H

c.1053C>T

1 paper

NM_000179.3

p.G354E

c.1061G>A

5 papers

NM_000179.3

p.G354V

c.1061G>T