Varaico: Literature-Extracted Genetic Variants

Gene:HJURP
Variant:p.R199G

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
3 papers
NM_018410.5
p.R199G
c.595A>G
Surrounding Variants
1 paper
NM_018410.5
p.S210A
c.628T>G
1 paper
NM_018410.5
p.S210*
c.629C>G
1 paper
NM_018410.5
p.S211A
c.631T>G
1 paper
NM_018410.5
p.S233S
c.699C>T
1 paper
NM_018410.5
p.S241C
c.721A>T
1 paper
NM_018410.5
p.F250L
c.750T>A
1 paper
NM_018410.5
p.V258M
c.772G>A
1 paper
NM_018410.5
p.K278insFs
c.833_834insTT
3 papers
NM_018410.5
p.S295C
c.884C>G
1 paper
NM_018410.5
p.R300S
c.900A>T
1 paper
NM_018410.5
p.R300S
c.900A>C
1 paper
NM_018410.5
p.Q317H
c.951G>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."