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.K218_S219insFs

c.654_655insT

Surrounding Variants

1 paper

NM_000179.3

p.S219insFs

c.655dupA

1 paper

NM_000179.3

p.S219_E221delFs

c.657_661del5

2 papers

NM_000179.3

p.S219R

c.655A>C

6 papers

NM_000179.3

p.S219G

c.655A>G

1 paper

NM_000179.3

p.K218M

c.653A>T

5 papers

NM_000179.3

p.K218fs

c.652_653fs

2 papers

NM_000179.3

p.K218insFs

c.652_653insT

2 papers

NM_000179.3

p.K218E

c.652A>G

18 papers

NM_000179.3

p.K218*

c.652A>T

3 papers

NM_000179.3

p.K218fs

c.652_653fs

1 paper

NM_000179.3

p.S219N

c.656G>A

1 paper

NM_000179.3

p.D217E

c.651T>A