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

Selected Variant

1 paper

NM_007062.3

p.L433delFs

c.1297delC

Surrounding Variants

1 paper

NM_007062.3

p.L433fs

c.1297_1298fs

1 paper

NM_007062.3

p.R456Q

c.1367G>A

1 paper

NM_007062.3

p.A406T

c.1216G>A

1 paper

NM_007062.3

p.G390Splc

c.1169-34C>G

1 paper

NM_007062.3

p.A383V

c.1148C>T

1 paper

NM_007062.3

p.G365S

c.1093G>A

1 paper

NM_007062.3

p.L359_A360Splc

c.1078-2A>T

4 papers

NM_007062.3

p.E468K

c.1402G>A

1 paper

NM_007062.3

p.V477F

c.1429G>T

1 paper

NM_007062.3

p.G488G

c.1464C>T

2 papers

NM_007062.3

p.L288F

c.864G>C

2 papers

NM_007062.3

p.L288F

c.864G>T