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.E30A

c.89A>C

Surrounding Variants

1 paper

NM_000179.3

p.E30G

c.89A>G

1 paper

NM_000179.3

p.E30V

c.89A>T

1 paper

NM_000179.3

p.G31insFs

c.91_92insG

3 papers

NM_000179.3

p.E30K

c.88G>A

1 paper

NM_000179.3

p.E30_G31insGGA

c.88_92ins9

2 papers

NM_000179.3

p.E30*

c.88G>T

1 paper

NM_000179.3

p.R29R

c.87C>T

1 paper

NM_000179.3

p.G31S

c.91G>A

2 papers

NM_000179.3

p.G31fs

c.91_92fs

1 paper

NM_000179.3

p.G31_G32insGAG

c.91_95ins9

2 papers

NM_000179.3

p.G31delins

c.91_92delinsTG

2 papers

NM_000179.3

p.R29H

c.86G>A