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

2 papers

NM_172166.4

p.Q292H

c.876G>T

Surrounding Variants

2 papers

NM_172166.4

p.Q292H

c.876G>C

1 paper

NM_172166.4

p.F293_L295del3

c.877_884del9

1 paper

NM_172166.4

p.L296delFs

c.887_888delTG

1 paper

NM_172166.4

p.D289_V290del2

c.865_869del6

1 paper

NM_172166.4

p.P297_Q298insD

c.889_893ins3

2 papers

NM_172166.4

p.R287H

c.860G>A

2 papers

NM_172166.4

p.Q298H

c.894G>T

1 paper

NM_172166.4

p.S285G

c.853A>G

1 paper

NM_172166.4

p.Q304R

c.911A>G

1 paper

NM_172166.4

p.H279R

c.836A>G

3 papers

NM_172166.4

p.P277L

c.830C>T

2 papers

NM_172166.4

p.R276C

c.826C>T