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.E272Q

c.814G>C

Surrounding Variants

4 papers

NM_000179.3

p.E272*

c.814G>T

1 paper

NM_000179.3

p.E271G

c.812A>G

1 paper

NM_000179.3

p.E271V

c.812A>T

4 papers

NM_000179.3

p.G273R

c.817G>A

4 papers

NM_000179.3

p.G273R

c.817G>C

1 paper

NM_000179.3

p.E271Q

c.811G>C

2 papers

NM_000179.3

p.G273E

c.818G>A

1 paper

NM_000179.3

p.K270N

c.810G>C

1 paper

NM_000179.3

p.G273A

c.818G>C

3 papers

NM_000179.3

p.G273V

c.818G>T

1 paper

NM_000179.3

p.K270N

c.810G>T

1 paper

NM_000179.3

p.E271delFs

c.812_813delAG