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.E198A

c.593A>C

Surrounding Variants

2 papers

NM_000179.3

p.E198G

c.593A>G

1 paper

NM_000179.3

p.E198K

c.592G>A

1 paper

NM_000179.3

p.E198E

c.594G>A

1 paper

NM_000179.3

p.E198_P199insFs

c.594_595insA

1 paper

NM_000179.3

p.E198_P199insTT

c.592_596ins6

1 paper

NM_000179.3

p.E198insFs

c.592_593insT

1 paper

NM_000179.3

p.E198*

c.592G>T

2 papers

NM_000179.3

p.P199delFs

c.597delC

1 paper

NM_000179.3

p.P199S

c.595C>T

1 paper

NM_000179.3

p.P199_E207del9

c.595_620del27

1 paper

NM_000179.3

p.D197G

c.590A>G

3 papers

NM_000179.3

p.P199L

c.596C>T