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

5 papers

NM_000179.3

p.I225insFs

c.674_675insTG

Surrounding Variants

2 papers

NM_000179.3

p.I225T

c.674T>C

1 paper

NM_000179.3

p.I225fs

c.673_674fs

3 papers

NM_000179.3

p.S227delFs

c.679_680delAG

1 paper

NM_000179.3

p.E226_S227delFs

c.676_679del4

1 paper

NM_000179.3

p.E226K

c.676G>A

3 papers

NM_000179.3

p.E226fs

c.676_677fs

3 papers

NM_000179.3

p.E226*

c.676G>T

1 paper

NM_000179.3

p.E226fs

c.676_677fs

1 paper

NM_000179.3

p.E224A

c.671A>C

2 papers

NM_000179.3

p.E226V

c.677A>T

1 paper

NM_000179.3

p.E224Q

c.670G>C

4 papers

NM_000179.3

p.E224*

c.670G>T