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.L712delFs

c.2135delT

Surrounding Variants

1 paper

NM_000179.3

p.L712fs

c.2134_2135fs

2 papers

NM_000179.3

p.P711S

c.2131C>T

1 paper

NM_000179.3

p.L712_D713insFs

c.2136_2137insG

4 papers

NM_000179.3

p.L712delFs

c.2136delG

1 paper

NM_000179.3

p.L712F

c.2136G>C

1 paper

NM_000179.3

p.L712F

c.2136G>T

1 paper

NM_000179.3

p.D713fs

c.2137_2138fs

1 paper

NM_000179.3

p.D713Y

c.2137G>T

2 papers

NM_000179.3

p.D713fs

c.2137_2138fs

1 paper

NM_000179.3

p.I710N

c.2129T>A

1 paper

NM_000179.3

p.I710fs

c.2128_2129fs

1 paper

NM_000179.3

p.I710V

c.2128A>G