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.T216T

c.648A>T

Surrounding Variants

1 paper

NM_000179.3

p.T216K

c.647C>A

1 paper

NM_000179.3

p.T216I

c.647C>T

1 paper

NM_000179.3

p.D217_S219delFs

c.651_655del5

1 paper

NM_000179.3

p.D217N

c.649G>A

1 paper

NM_000179.3

p.D217fs

c.649_650fs

2 papers

NM_000179.3

p.D217Y

c.649G>T

1 paper

NM_000179.3

p.T216fs

c.646_647fs

26 papers

NM_000179.3

p.D217insFs

c.651dupT

5 papers

NM_000179.3

p.D217G

c.650A>G

1 paper

NM_000179.3

p.T216insFs

c.647_648dupCA

1 paper

NM_000179.3

p.D217E

c.651T>A

1 paper

NM_000179.3

p.D217E

c.651T>G