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.P80S

c.238C>T

Surrounding Variants

1 paper

NM_172166.4

p.P80P

c.240A>G

1 paper

NM_172166.4

p.A79V

c.236C>T

1 paper

NM_172166.4

p.A79T

c.235G>A

1 paper

NM_172166.4

p.M76_P77ins4

c.226_230ins12

10 papers

NM_172166.4

p.L85F

c.253C>T

1 paper

NM_172166.4

p.H74H

c.222C>T

1 paper

NM_172166.4

p.F75_M76del2

c.223_227del6

1 paper

NM_172166.4

p.I73V

c.217A>G

1 paper

NM_172166.4

p.G59G

c.177A>G

1 paper

NM_172166.4

p.W56_N57insFs

c.168_169insT

1 paper

NM_172166.4

p.E45E

c.135G>A

1 paper

NM_172166.4

p.E45_E46delFs

c.135_136delGG