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.S79W

c.236C>G

Surrounding Variants

2 papers

NM_000179.3

p.S79*

c.236C>A

1 paper

NM_000179.3

p.S79T

c.235T>A

1 paper

NM_000179.3

p.S79P

c.235T>C

1 paper

NM_000179.3

p.R78S

c.234A>C

2 papers

NM_000179.3

p.R78S

c.234A>T

1 paper

NM_000179.3

p.V80I

c.238G>A

1 paper

NM_000179.3

p.V80insFs

c.239dupT

5 papers

NM_000179.3

p.R78K

c.233G>A

1 paper

NM_000179.3

p.V80E

c.239T>A

1 paper

NM_000179.3

p.V80A

c.239T>C

1 paper

NM_000179.3

p.V80G

c.239T>G

3 papers

NM_000179.3

p.R78G

c.232A>G