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

4 papers

NM_000179.3

p.D222N

c.664G>A

Surrounding Variants

2 papers

NM_000179.3

p.D222delFs

c.665delA

33 papers

NM_000179.3

p.E221D

c.663A>C

32 papers

NM_000179.3

p.E221D

c.663A>T

1 paper

NM_000179.3

p.E221_N223Fs

c.663_667delinsTACFs

1 paper

NM_000179.3

p.D222E

c.666T>A

1 paper

NM_000179.3

p.D222D

c.666T>C

4 papers

NM_000179.3

p.N223D

c.667A>G

2 papers

NM_000179.3

p.E221K

c.661G>A

2 papers

NM_000179.3

p.E221Q

c.661G>C

1 paper

NM_000179.3

p.E221insFs

c.663dupA

1 paper

NM_000179.3

p.E221fs

c.661_662fs

1 paper

NM_000179.3

p.E221delFs

c.662delA