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.A168G

c.503C>G

Surrounding Variants

1 paper

NM_000179.3

p.A168E

c.503C>A

1 paper

NM_000179.3

p.K169insFs

c.505_506dupAA

2 papers

NM_000179.3

p.A168V

c.503C>T

1 paper

NM_000179.3

p.A168P

c.502G>C

4 papers

NM_000179.3

p.K169E

c.505A>G

1 paper

NM_000179.3

p.S167S

c.501T>C

1 paper

NM_000179.3

p.S167N

c.500G>A

1 paper

NM_000179.3

p.S167I

c.500G>T

1 paper

NM_000179.3

p.Y166*

c.498C>A

1 paper

NM_000179.3

p.Y166*

c.498C>G

1 paper

NM_000179.3

p.P170A

c.508C>G

3 papers

NM_000179.3

p.P170S

c.508C>T