Varaico: Literature-Extracted Genetic Variants

Gene:HJURP
Variant:p.Y396*

HJURP

98 papers

Pfam Domains

Scm3aa 18–75UCSCCentromere protein Scm3
HJURP_midaa 271–385UCSCHolliday junction recognition protein-associated repeat
HJURP_Caa 409–470UCSCHolliday junction regulator protein family C-terminal repeat
HJURP_Caa 554–613UCSCHolliday junction regulator protein family C-terminal repeat

Gene Aliases

HGNC Name

Holliday junction recognition protein

HGNC Alias Symbols

DKFZp762E1312; URLC9; hFLEG1; FAKTS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018410.5
p.Y396*
c.1188T>A
Surrounding Variants
1 paper
NM_018410.5
p.Y396*
c.1188T>G
1 paper
NM_018410.5
p.S412A
c.1234T>G
1 paper
NM_018410.5
p.P413L
c.1238C>T
1 paper
NM_018410.5
p.H426Y
c.1276C>T
1 paper
NM_018410.5
p.E356G
c.1067A>G
1 paper
NM_018410.5
p.Q440R
c.1319A>G
1 paper
NM_018410.5
p.R349H
c.1046G>A
1 paper
NM_018410.5
p.S328F
c.983C>T
1 paper
NM_018410.5
p.G469R
c.1405G>C
1 paper
NM_018410.5
p.G469R
c.1405G>A
1 paper
NM_018410.5
p.Q317H
c.951G>T
1 paper
NM_018410.5
p.Q317H
c.951G>C
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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."