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.D268G

c.803A>G

Surrounding Variants

1 paper

NM_000179.3

p.D268insFs

c.803_804ins26

1 paper

NM_000179.3

p.D268A

c.803A>C

1 paper

NM_000179.3

p.D268D

c.804C>T

1 paper

NM_000179.3

p.D268H

c.802G>C

1 paper

NM_000179.3

p.D268fs

c.802_803fs

1 paper

NM_000179.3

p.D268insFs

c.802_803insT

1 paper

NM_000179.3

p.D268Y

c.802G>T

1 paper

NM_000179.3

p.D268fs

c.802_803fs

1 paper

NM_000179.3

p.P267P

c.801A>C

1 paper

NM_000179.3

p.T269A

c.805A>G

6 papers

NM_000179.3

p.T269S

c.805A>T

1 paper

NM_000179.3

p.P267Q

c.800C>A