Varaico: Literature-Extracted Genetic Variants

Gene:PWP2
Variant:p.W486*

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.W486*
c.1458G>A
Surrounding Variants
1 paper
NM_005049.3
p.W486*
c.1457G>A
1 paper
NM_005049.3
p.A475insFs
c.1424_1425insA
1 paper
NM_005049.3
p.G470S
c.1408G>A
1 paper
NM_005049.3
p.R440*
c.1318C>T
1 paper
NM_005049.3
p.T438S
c.1313C>G
1 paper
NM_005049.3
p.T438S
c.1312A>T
1 paper
NM_005049.3
p.T539A
c.1615A>G
1 paper
NM_005049.3
p.T543T
c.1629C>T
1 paper
NM_005049.3
p.D545H
c.1633G>C
1 paper
NM_005049.3
p.E413K
c.1237G>A
1 paper
NM_005049.3
p.D394N
c.1180G>A
1 paper
NM_005049.3
p.K368E
c.1102A>G
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