Varaico: Literature-Extracted Genetic Variants

PWP1

28 papers

RefSeq Summary

The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is...

Pfam Domains

WD40aa 184–223UCSCWD domain, G-beta repeat

WD40aa 227–266UCSCWD domain, G-beta repeat

WD40aa 246–285UCSCWD domain, G-beta repeat

WD40aa 313–352UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

PWP1 homolog, endonuclein

HGNC Alias Symbol

IEF-SSP-9502

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

4 papers

NM_007062.3

p.E468K

c.1402G>A

2 papers

NM_007062.3

p.R34H

c.101G>A

2 papers

NM_007062.3

p.L288F

c.864G>C

2 papers

NM_007062.3

p.L288F

c.864G>T

1 paper

NM_007062.3

p.I36delFs

c.107delT

1 paper

NM_007062.3

p.Q64H

c.192G>C

1 paper

NM_007062.3

p.Q64H

c.192G>T

1 paper

NM_007062.3

p.R71C

c.211C>T

1 paper

NM_007062.3

p.P75S

c.223C>T

1 paper

NM_007062.3

p.F143L

c.427T>C

1 paper

NM_007062.3

p.F143L

c.429C>A

1 paper

NM_007062.3

p.F143L

c.429C>G