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.R62C

c.184C>T

Surrounding Variants

2 papers

NM_000179.3

p.R62S

c.184C>A

1 paper

NM_000179.3

p.R62fs

c.184_185fs

2 papers

NM_000179.3

p.R62H

c.185G>A

1 paper

NM_000179.3

p.R62insFs

c.185_186insA

1 paper

NM_000179.3

p.R62_S63insFs

c.186_187dupCT

1 paper

NM_000179.3

p.R62L

c.185G>T

15 papers

NM_000179.3

p.R62R

c.186C>A

1 paper

NM_000179.3

p.R62_S63ins6

c.186_187ins18

2 papers

NM_000179.3

p.A61V

c.182C>T

2 papers

NM_000179.3

p.A61T

c.181G>A

1 paper

NM_000179.3

p.R62_A64delFs

c.184_190del7

3 papers

NM_000179.3

p.S63P

c.187T>C