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.M807V

c.2419A>G

Surrounding Variants

9 papers

NM_172166.4

p.P786S

c.2356C>T

1 paper

NM_172166.4

p.S780N

c.2339G>A

1 paper

NM_172166.4

p.R779H

c.2336G>A

1 paper

NM_172166.4

p.E773_V774Splc

c.2319+2T>G

1 paper

NM_172166.4

p.V768_A769delFs

c.2303_2306del4

3 papers

NM_172166.4

p.Y742F

c.2225A>T

1 paper

NM_172166.4

p.M729I

c.2187G>T

1 paper

NM_172166.4

p.P722L

c.2165C>T

1 paper

NM_172166.4

p.Q720_L723del4

c.2158_2168del12

3 papers

NM_172166.4

p.Q716Q

c.2148A>G

1 paper

NM_172165.4

p.L711L

c.2131C>T

4 papers

NM_172166.4

p.I703V

c.2107A>G