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.K218delFs

c.652_653delAA

Surrounding Variants

1 paper

NM_000179.3

p.D217E

c.651T>A

1 paper

NM_000179.3

p.D217E

c.651T>G

5 papers

NM_000179.3

p.K218fs

c.652_653fs

26 papers

NM_000179.3

p.D217insFs

c.651dupT

2 papers

NM_000179.3

p.K218insFs

c.652_653insT

5 papers

NM_000179.3

p.D217G

c.650A>G

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.K218M

c.653A>T

1 paper

NM_000179.3

p.D217N

c.649G>A

1 paper

NM_000179.3

p.D217fs

c.649_650fs