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.D499Splc

c.1495+1G>T

Surrounding Variants

1 paper

NM_172166.4

p.R498R

c.1494G>T

1 paper

NM_172166.4

p.C495C

c.1485C>T

1 paper

NM_172166.4

p.H494Q

c.1482C>A

1 paper

NM_172166.4

p.H494Q

c.1482C>G

1 paper

NM_172166.4

p.G491W

c.1471G>T

15 papers

NM_172166.4

p.D487Y

c.1459G>T

1 paper

NM_172166.4

p.E474*

c.1420G>T

1 paper

NM_172166.4

p.D499Splc

c.1496-5C>A

1 paper

NM_172166.4

p.Q507K

c.1519C>A

1 paper

NM_172166.4

p.L519F

c.1557A>C

1 paper

NM_172166.4

p.L519F

c.1557A>T

2 papers

NM_172166.4

p.S537T

c.1610G>C