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

2 papers

NM_000179.3

p.G430E

c.1289G>A

Surrounding Variants

2 papers

NM_000179.3

p.G430G

c.1290G>A

1 paper

NM_000179.3

p.G430R

c.1288G>A

1 paper

NM_000179.3

p.G430R

c.1288G>C

1 paper

NM_000179.3

p.G430W

c.1288G>T

1 paper

NM_000179.3

p.K431fs

c.1291_1292fs

1 paper

NM_000179.3

p.K431E

c.1291A>G

1 paper

NM_000179.3

p.K431T

c.1292A>C

1 paper

NM_000179.3

p.V429G

c.1286T>G

1 paper

NM_000179.3

p.G430delFs

c.1290delG

2 papers

NM_000179.3

p.Y433insFs

c.1297dupT

1 paper

NM_000179.3

p.V429delFs

c.1286delT

6 papers

NM_000179.3

p.F432L

c.1294T>C