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.L76V

c.226C>G

Surrounding Variants

1 paper

NM_000179.3

p.L76L

c.226C>T

1 paper

NM_000179.3

p.G75G

c.225G>A

1 paper

NM_000179.3

p.G75E

c.224G>A

1 paper

NM_000179.3

p.L76L

c.228G>A

1 paper

NM_000179.3

p.G75A

c.224G>C

2 papers

NM_000179.3

p.R77W

c.229C>T

1 paper

NM_000179.3

p.R77Q

c.230G>A

1 paper

NM_000179.3

p.G74E

c.221G>A

1 paper

NM_000179.3

p.R78insFs

c.232_233insAA

1 paper

NM_000179.3

p.G74V

c.221G>T

3 papers

NM_000179.3

p.R78G

c.232A>G

4 papers

NM_000179.3

p.G74R

c.220G>A