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.K453Q

c.1357A>C

Surrounding Variants

1 paper

NM_000179.3

p.K453*

c.1357A>T

1 paper

NM_000179.3

p.K453fs

c.1357_1358fs

2 papers

NM_000179.3

p.M452I

c.1356G>A

2 papers

NM_000179.3

p.M452I

c.1356G>C

2 papers

NM_000179.3

p.K453insFs

c.1358dupA

2 papers

NM_000179.3

p.M452I

c.1356G>T

1 paper

NM_000179.3

p.K453delFs

c.1358_1359delAA

1 paper

NM_000179.3

p.K453N

c.1359A>C

1 paper

NM_000179.3

p.K453K

c.1359A>G

1 paper

NM_000179.3

p.M452K

c.1355T>A

2 papers

NM_000179.3

p.M452T

c.1355T>C

4 papers

NM_000179.3

p.M452V

c.1354A>G