Varaico: Literature-Extracted Genetic Variants

Gene:HJURP

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
1–12 of 88 variants
4 papers
NM_018410.5
p.S549C
c.1646C>G
4 papers
NM_018410.5
p.E568D
c.1704A>T
4 papers
NM_018410.5
p.E568D
c.1704A>C
3 papers
NM_018410.5
p.E76K
c.226G>A
3 papers
NM_018410.5
p.R199G
c.595A>G
3 papers
NM_018410.5
p.S295C
c.884C>G
2 papers
NM_018410.5
p.D16E
c.48C>G
2 papers
NM_018410.5
p.A112S
c.334G>T
2 papers
NM_018410.5
p.A134_P135Splc
c.403-1G>T
2 papers
NM_018410.5
p.P189S
c.565C>T
2 papers
NM_018410.5
p.S548T
c.1643G>C
2 papers
NM_018410.5
p.E723G
c.2168A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."