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

1 paper

NM_000179.3

p.T139A

c.415A>G

Surrounding Variants

1 paper

NM_000179.3

p.T139S

c.415A>T

1 paper

NM_000179.3

p.T139R

c.416C>G

1 paper

NM_000179.3

p.T139I

c.416C>T

1 paper

NM_000179.3

p.P138Q

c.413C>A

1 paper

NM_000179.3

p.P138R

c.413C>G

1 paper

NM_000179.3

p.P138L

c.413C>T

2 papers

NM_000179.3

p.R140G

c.418A>G

1 paper

NM_000179.3

p.P138T

c.412C>A

1 paper

NM_000179.3

p.P138S

c.412C>T

1 paper

NM_000179.3

p.S137N

c.410G>A

2 papers

NM_000179.3

p.G141S

c.421G>A

1 paper

NM_000179.3

p.G141R

c.421G>C