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.R34S

c.102G>T

Surrounding Variants

1 paper

NM_172166.4

p.R34S

c.102G>C

1 paper

NM_172166.4

p.E35V

c.104A>T

1 paper

NM_172166.4

p.A36A

c.108C>T

1 paper

NM_172166.4

p.G32insFs

c.96dupC

1 paper

NM_172166.4

p.G32C

c.94G>T

1 paper

NM_172166.4

p.V30G

c.89T>G

1 paper

NM_172166.4

p.P29L

c.86C>T

30 papers

NM_172166.4

p.P29S

c.85C>T

1 paper

NM_172166.4

p.A28A

c.84C>A

1 paper

NM_172166.4

p.A28A

c.84C>T

2 papers

NM_172166.4

p.S26fs

c.76_77fs

1 paper

NM_172166.4

p.S26insFs

c.76_77ins4