Varaico: Literature-Extracted Genetic Variants

Gene:HJURP
Variant:p.Q125Q

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.Q125Q
c.375G>A
Surrounding Variants
1 paper
NM_018410.5
p.A132T
c.394G>A
1 paper
NM_018410.5
p.S116G
c.346A>G
1 paper
NM_018410.5
p.D113N
c.337G>A
2 papers
NM_018410.5
p.A134_P135Splc
c.403-1G>T
1 paper
NM_018410.5
p.A136T
c.406G>A
1 paper
NM_018410.5
p.E145K
c.433G>A
1 paper
NM_018410.5
p.R147G
c.439A>G
1 paper
NM_018410.5
p.E162A
c.485A>C
1 paper
NM_018410.5
p.D113N
c.337G>A
2 papers
NM_018410.5
p.A112S
c.334G>T
1 paper
NM_018410.5
p.R107H
c.320G>A
1 paper
NM_018410.5
p.V94V
c.282G>A
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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."