Varaico: Literature-Extracted Genetic Variants

Gene:PWP2
Variant:p.I180N

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.I180N
c.539T>A
Surrounding Variants
1 paper
NM_005049.3
p.D189N
c.565G>A
1 paper
NM_005049.3
p.P220T
c.658C>A
1 paper
NM_005049.3
p.E247del1
c.739_740delGAG
1 paper
NM_005049.3
p.E247K
c.739G>A
1 paper
NM_005049.3
p.R258W
c.772C>T
1 paper
NM_005049.3
p.R258L
c.773G>T
1 paper
NM_005049.3
p.V135I
c.403G>A
1 paper
NM_005049.3
p.A119V
c.356C>T
1 paper
NM_005049.3
p.R109Splc
c.326+82C>T
1 paper
NM_005049.3
p.D78N
c.232G>A
1 paper
NM_005049.3
p.R68C
c.202C>T
1 paper
NM_005049.3
p.P65L
c.194C>T
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