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.S227N

c.680G>A

Surrounding Variants

6 papers

NM_000179.3

p.S227I

c.680G>T

1 paper

NM_000179.3

p.S227R

c.679A>C

1 paper

NM_000179.3

p.S227G

c.679A>G

1 paper

NM_000179.3

p.S227R

c.681T>A

1 paper

NM_000179.3

p.S227R

c.681T>G

1 paper

NM_000179.3

p.E228K

c.682G>A

1 paper

NM_000179.3

p.E228Q

c.682G>C

2 papers

NM_000179.3

p.E226V

c.677A>T

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