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.K161K

c.483G>A

Surrounding Variants

1 paper

NM_000179.3

p.K161T

c.482A>C

8 papers

NM_000179.3

p.G162R

c.484G>A

8 papers

NM_000179.3

p.G162R

c.484G>C

4 papers

NM_000179.3

p.G162*

c.484G>T

2 papers

NM_000179.3

p.G162E

c.485G>A

1 paper

NM_000179.3

p.G162A

c.485G>C

1 paper

NM_000179.3

p.G162G

c.486A>G

3 papers

NM_000179.3

p.G163S

c.487G>A

1 paper

NM_000179.3

p.G163R

c.487G>C

1 paper

NM_000179.3

p.G163C

c.487G>T

3 papers

NM_000179.3

p.Q160K

c.478C>A

3 papers

NM_000179.3

p.Q160*

c.478C>T