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

3 papers

NM_000179.3

p.K299N

c.897G>C

Surrounding Variants

3 papers

NM_000179.3

p.K299N

c.897G>T

1 paper

NM_000179.3

p.K299insFs

c.896_897insG

1 paper

NM_000179.3

p.K299R

c.896A>G

11 papers

NM_000179.3

p.R300insFs

c.900dupG

1 paper

NM_000179.3

p.R300fs

c.898_899fs

6 papers

NM_000179.3

p.R300W

c.898C>T

1 paper

NM_000179.3

p.R300_K301delFs

c.900_903del4

1 paper

NM_000179.3

p.K299fs

c.895_896fs

1 paper

NM_000179.3

p.K299E

c.895A>G

1 paper

NM_000179.3

p.K299*

c.895A>T

1 paper

NM_000179.3

p.R300Q

c.899G>A

1 paper

NM_000179.3

p.R300P

c.899G>C