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.G306E

c.917G>A

Surrounding Variants

1 paper

NM_000179.3

p.G306A

c.917G>C

1 paper

NM_000179.3

p.G306R

c.916G>A

1 paper

NM_000179.3

p.G306*

c.916G>T

1 paper

NM_000179.3

p.T305T

c.915T>A

1 paper

NM_000179.3

p.T305S

c.913A>T

1 paper

NM_000179.3

p.G308S

c.922G>A

3 papers

NM_000179.3

p.G308R

c.922G>C

1 paper

NM_000179.3

p.V304V

c.912G>C

2 papers

NM_000179.3

p.L310delFs

c.928_929delCT

3 papers

NM_000179.3

p.V304A

c.911T>C

1 paper

NM_000179.3

p.V304delFs

c.911delT

1 paper

NM_000179.3

p.S309T

c.925T>A