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

3 papers

NM_172166.4

p.T226_Y227delFs

c.678_681del4

Surrounding Variants

1 paper

NM_172166.4

p.T226I

c.677C>T

2 papers

NM_172166.4

p.Y227fs

c.679_680fs

2 papers

NM_172166.4

p.D223V

c.668A>T

1 paper

NM_172166.4

p.V220A

c.659T>C

1 paper

NM_172166.4

p.L216L

c.648G>A

1 paper

NM_172166.4

p.L216Splc

c.648-2A>G

1 paper

NM_172166.4

p.L209L

c.625C>T

4 papers

NM_172166.4

p.V206F

c.616G>T

1 paper

NM_172166.4

p.N203S

c.608A>G

3 papers

NM_172166.4

p.Y202C

c.605A>G

1 paper

NM_172166.4

p.L186L

c.556C>T

1 paper

NM_025259.6

p.G202R

c.604G>A