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.P293fs

c.877_878fs

Surrounding Variants

1 paper

NM_000179.3

p.P293_V294insC

c.877_881ins3

3 papers

NM_000179.3

p.P293S

c.877C>T

2 papers

NM_000179.3

p.P293fs

c.877_878fs

1 paper

NM_000179.3

p.P293H

c.878C>A

1 paper

NM_000179.3

p.P293R

c.878C>G

2 papers

NM_000179.3

p.P293L

c.878C>T

2 papers

NM_000179.3

p.P293_V294Fs

c.878_881delinsTTFs

2 papers

NM_000179.3

p.P293_K295Fs

c.878_883delinsTTCGFs

2 papers

NM_000179.3

p.S292T

c.875G>C

1 paper

NM_000179.3

p.S292_P293insFs

c.876_877insC

1 paper

NM_000179.3

p.S292I

c.875G>T

1 paper

NM_000179.3

p.V294I

c.880G>A