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.D649V

c.1946A>T

Surrounding Variants

1 paper

NM_000179.3

p.D649N

c.1945G>A

1 paper

NM_000179.3

p.G650_I651insT

c.1948_1952ins3

1 paper

NM_000179.3

p.S648R

c.1944T>A

1 paper

NM_000179.3

p.S648R

c.1944T>G

3 papers

NM_000179.3

p.G650D

c.1949G>A

1 paper

NM_000179.3

p.S648R

c.1942A>C

3 papers

NM_000179.3

p.S648delFs

c.1943delG

2 papers

NM_000179.3

p.S648fs

c.1942_1943fs

1 paper

NM_000179.3

p.I651_G652delFs

c.1951_1954del4

1 paper

NM_000179.3

p.I651_G652insT

c.1951_1955ins3

1 paper

NM_000179.3

p.I651fs

c.1951_1952fs

1 paper

NM_000179.3

p.I651_G652Fs

c.1951_1955delinsCFs