Varaico: Literature-Extracted Genetic Variants

Gene:PWWP3A
Variant:p.V429I

PWWP3A

48 papers

Pfam Domains

PWP3A-B_Naa 6–100UCSCPWWP domain-containing DNA repair factor 3A/B, N-terminal
MUM1-like_PWWPaa 409–488UCSCMUM1-like, PWWP domain
PWP3A-B_Caa 517–708UCSCPWWP domain-containing DNA repair factor 3A/B, C-terminal

Gene Aliases

HGNC Name

PWWP domain containing 3A, DNA repair factor

HGNC Previous Symbol

MUM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001369789.1
p.V429I
c.1285G>A
Surrounding Variants
2 papers
NM_001369789.1
p.K421fs
c.1261_1262fs
1 paper
NM_001369789.1
p.D391N
c.1171G>A
1 paper
NM_001369789.1
p.E390_E392del0
c.1168_1176del9
1 paper
NM_001369789.1
p.R385H
c.1154G>A
1 paper
NM_001369789.1
p.R385C
c.1153C>T
1 paper
NM_001369789.1
p.Q526*
c.1576C>T
1 paper
NM_001369789.1
p.E542K
c.1624G>A
1 paper
NM_001369789.1
p.V545V
c.1635G>A
1 paper
NM_001369789.1
p.P555L
c.1664C>T
1 paper
NM_001369789.1
p.Q637R
c.1910A>G
1 paper
NM_001369789.1
p.D650N
c.1948G>A
1 paper
NM_001369789.1
p.R340C
c.1018C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."