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

6 papers

NM_000179.3

p.R959C

c.2875C>T

Surrounding Variants

1 paper

NM_000179.3

p.R959S

c.2875C>A

8 papers

NM_000179.3

p.R959H

c.2876G>A

1 paper

NM_000179.3

p.Q958R

c.2873A>G

1 paper

NM_000179.3

p.Q958fs

c.2872_2873fs

3 papers

NM_000179.3

p.Q958*

c.2872C>T

1 paper

NM_000179.3

p.Q958delFs

c.2873delA

1 paper

NM_000179.3

p.Q958delFs

c.2873_2874delAG

1 paper

NM_000179.3

p.Q958fs

c.2872_2873fs

1 paper

NM_000179.3

p.K957R

c.2870A>G

1 paper

NM_000179.3

p.K957_Q958delFs

c.2871_2872delAC

1 paper

NM_000179.3

p.K957E

c.2869A>G

1 paper

NM_000179.3

p.R961G

c.2881A>G