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.N203S

c.608A>G

Surrounding Variants

3 papers

NM_172166.4

p.Y202C

c.605A>G

4 papers

NM_172166.4

p.V206F

c.616G>T

1 paper

NM_172166.4

p.L209L

c.625C>T

1 paper

NM_172166.4

p.L186L

c.556C>T

1 paper

NM_025259.6

p.G202R

c.604G>A

1 paper

NM_025259.6

p.G202R

c.604G>C

3 papers

NM_172166.4

p.R181*

c.541C>T

1 paper

NM_172166.4

p.V180I

c.538G>A

2 papers

NM_172166.4

p.T179_V180Splc

c.537+1G>A

1 paper

NM_172166.4

p.L177L

c.531C>T

1 paper

NM_172166.4

p.P173P

c.519C>A

1 paper

NM_172166.4

p.I165T

c.494T>C