Varaico: Literature-Extracted Genetic Variants

Gene:PWP2
Variant:p.E316K

PWP2

47 papers

Pfam Domains

WD40aa 363–401UCSCWD domain, G-beta repeat
WD40aa 405–443UCSCWD domain, G-beta repeat
WD40aa 491–529UCSCWD domain, G-beta repeat
Utp12aa 770–875UCSCDip2/Utp12 Family

Gene Aliases

HGNC Name

PWP2 small subunit processome component

HGNC Previous Symbol

PWP2H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005049.3
p.E316K
c.946G>A
Surrounding Variants
1 paper
NM_005049.3
p.E319K
c.955G>A
1 paper
NM_005049.3
p.G310R
c.928G>A
1 paper
NM_005049.3
p.G310R
c.928G>C
1 paper
NM_005049.3
p.A308T
c.922G>A
1 paper
NM_005049.3
p.L291V
c.871C>G
1 paper
NM_005049.3
p.D287N
c.859G>A
1 paper
NM_005049.3
p.N339S
c.1016A>G
1 paper
NM_005049.3
p.K368E
c.1102A>G
1 paper
NM_005049.3
p.D394N
c.1180G>A
1 paper
NM_005049.3
p.R258L
c.773G>T
1 paper
NM_005049.3
p.R258W
c.772C>T
1 paper
NM_005049.3
p.E247K
c.739G>A
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