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

1–12 of 180 variants

30 papers

NM_172166.4

p.P29S

c.85C>T

15 papers

NM_172166.4

p.D487Y

c.1459G>T

13 papers

NM_172166.4

p.R351G

c.1051C>G

10 papers

NM_172166.4

p.L85F

c.253C>T

9 papers

NM_172166.4

p.P786S

c.2356C>T

7 papers

NM_172166.4

p.P619delFs

c.1857delA

6 papers

NM_172166.4

p.P25insFs

c.75dupC

6 papers

NM_172166.4

p.R322C

c.964C>T

6 papers

NM_172166.4

p.K603R

c.1808A>G

5 papers

NM_172166.4

p.L377F

c.1129C>T

5 papers

NM_172166.4

p.C638*

c.1914C>A

4 papers

NM_172166.4

p.V206F

c.616G>T