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.L371insFs

c.1113dupG

Surrounding Variants

1 paper

NM_172166.4

p.H372Y

c.1114C>T

1 paper

NM_172166.4

p.I374I

c.1122C>T

2 papers

NM_172166.4

p.S376delFs

c.1126delA

5 papers

NM_172166.4

p.L377F

c.1129C>T

1 paper

NM_172166.4

p.Q365E

c.1093C>G

1 paper

NM_172166.4

p.I378T

c.1133T>C

1 paper

NM_172166.4

p.K380_V381delFs

c.1140_1143del4

1 paper

NM_172166.4

p.D362delFs

c.1085_1086delAC

1 paper

NM_172166.4

p.R361Q

c.1082G>A

4 papers

NM_172166.4

p.L353M

c.1057C>A

13 papers

NM_172166.4

p.R351G

c.1051C>G

1 paper

NM_172166.4

p.L344P

c.1031T>C