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.S405F

c.1214C>T

Surrounding Variants

3 papers

NM_000179.3

p.S405C

c.1214C>G

1 paper

NM_000179.3

p.C406G

c.1216T>G

2 papers

NM_000179.3

p.N404S

c.1211A>G

1 paper

NM_000179.3

p.S405delFs

c.1213delT

5 papers

NM_000179.3

p.C406Y

c.1217G>A

1 paper

NM_000179.3

p.T407S

c.1219A>T

1 paper

NM_000179.3

p.T407delFs

c.1220delC

1 paper

NM_000179.3

p.T407S

c.1220C>G

1 paper

NM_000179.3

p.T407I

c.1220C>T

1 paper

NM_000179.3

p.L403delFs

c.1209delC

2 papers

NM_000179.3

p.L403I

c.1207C>A

1 paper

NM_000179.3

p.L403F

c.1207C>T