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.V215L

c.643G>C

Surrounding Variants

7 papers

NM_000179.3

p.V215I

c.643G>A

1 paper

NM_000179.3

p.V215fs

c.643_644fs

1 paper

NM_000179.3

p.V215insFs

c.644dupT

1 paper

NM_000179.3

p.V215L

c.643G>T

22 papers

NM_000179.3

p.Y214*

c.642C>A

25 papers

NM_000179.3

p.Y214*

c.642C>G

23 papers

NM_000179.3

p.Y214Y

c.642C>T

2 papers

NM_000179.3

p.V215delFs

c.643delG

1 paper

NM_000179.3

p.V215G

c.644T>G

1 paper

NM_000179.3

p.T216insFs

c.647_648dupCA

1 paper

NM_000179.3

p.Y214delFs

c.642delC

1 paper

NM_000179.3

p.T216fs

c.646_647fs