Varaico: Literature-Extracted Genetic Variants

MSH5

186 papers

RefSeq Summary

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that partici...

Pfam Domains

MutS5_Naa 45–199UCSCMutS5 N-terminal domain

MutS_IIIaa 225–536UCSCMutS domain III

MutS_IVaa 398–496UCSCMutS family domain IV

MutS_Vaa 588–779UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 5

HGNC Alias Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172166.4

p.R431H

c.1292G>A

Surrounding Variants

2 papers

NM_172166.4

p.R422C

c.1264C>T

1 paper

NM_172166.4

p.K406Splc

c.1217-2A>G

1 paper

NM_172166.4

p.L396F

c.1186C>T

2 papers

NM_172166.4

p.T394A

c.1180A>G

1 paper

NM_172166.4

p.R392H

c.1175G>A

1 paper

NM_172166.4

p.A389T

c.1165G>A

1 paper

NM_172166.4

p.I449I

c.1347T>A

1 paper

NM_172166.4

p.R451delFs

c.1351delC

1 paper

NM_172166.4

p.R451C

c.1351C>T

1 paper

NM_172166.4

p.L452L

c.1354C>T

1 paper

NM_172166.4

p.K380_V381delFs

c.1140_1143del4

1 paper

NM_172166.4

p.I378T

c.1133T>C