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.R562delFs

c.1686delA

Surrounding Variants

1 paper

NM_172166.4

p.T572T

c.1716C>T

1 paper

NM_172166.4

p.N576Y

c.1726A>T

2 papers

NM_172166.4

p.C580G

c.1738T>G

1 paper

NM_172166.4

p.S595S

c.1785A>C

6 papers

NM_172166.4

p.K603R

c.1808A>G

1 paper

NM_172166.4

p.R557Q

c.1670G>A

1 paper

NM_172166.4

p.V553V

c.1659C>T

1 paper

NM_172166.4

p.P551S

c.1651C>T

1 paper

NM_172166.4

p.R548S

c.1642C>A

1 paper

NM_172166.4

p.S545L

c.1634C>T

2 papers

NM_172166.4

p.S537T

c.1610G>C

1 paper

NM_172166.4

p.L519F

c.1557A>C