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

2 papers

NM_000179.3

p.R312delins

c.935_936delinsTT

Surrounding Variants

2 papers

NM_000179.3

p.R312W

c.934A>T

1 paper

NM_000179.3

p.K313insFs

c.939dupA

2 papers

NM_000179.3

p.K313delFs

c.939delA

1 paper

NM_000179.3

p.K311E

c.931A>G

2 papers

NM_000179.3

p.K311fs

c.931_932fs

1 paper

NM_000179.3

p.S314fs

c.940_941fs

4 papers

NM_000179.3

p.S314R

c.940A>C

1 paper

NM_000179.3

p.S314C

c.940A>T

1 paper

NM_000179.3

p.K311_R312delFs

c.931_935del5

1 paper

NM_000179.3

p.R312_S314del0

c.936_941del6

1 paper

NM_000179.3

p.S314I

c.941G>T

1 paper

NM_000179.3

p.S314_S315delFs

c.942_945del4