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.M868fs

c.2602_2603fs

Surrounding Variants

1 paper

NM_000179.3

p.M868V

c.2602A>G

1 paper

NM_000179.3

p.M868delFs

c.2603delT

1 paper

NM_000179.3

p.V867_M868ins2

c.2601_2602ins6

1 paper

NM_000179.3

p.M868delFs

c.2604delG

1 paper

NM_000179.3

p.M868_I871delFs

c.2604_2611del8

1 paper

NM_000179.3

p.V867A

c.2600T>C

1 paper

NM_000179.3

p.V867G

c.2600T>G

1 paper

NM_000179.3

p.M868insFs

c.2602dupA

1 paper

NM_000179.3

p.V867_M868delFs

c.2601_2602delAA

4 papers

NM_000179.3

p.V867I

c.2599G>A

1 paper

NM_000179.3

p.C869Y

c.2606G>A

2 papers

NM_000179.3

p.K866T

c.2597A>C