Varaico: Literature-Extracted Genetic Variants

Gene:PWP2
Variant:p.L754R

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.L754R
c.2261T>G
Surrounding Variants
1 paper
NM_005049.3
p.L754L
c.2260C>T
1 paper
NM_005049.3
p.R751C
c.2251C>T
1 paper
NM_005049.3
p.P747P
c.2241C>G
1 paper
NM_005049.3
p.P738P
c.2214G>A
1 paper
NM_005049.3
p.E723D
c.2169G>C
1 paper
NM_005049.3
p.E723D
c.2169G>T
1 paper
NM_005049.3
p.A719T
c.2155G>A
1 paper
NM_005049.3
p.R709C
c.2125C>T
1 paper
NM_005049.3
p.V689I
c.2065G>A
1 paper
NM_005049.3
p.D673H
c.2017G>C
1 paper
NM_005049.3
p.R660Q
c.1979G>A
2 papers
NM_005049.3
p.N869T
c.2606A>C
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