Varaico: Literature-Extracted Genetic Variants

Gene:HJURP
Variant:p.F623L

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.F623L
c.1869C>A
Surrounding Variants
1 paper
NM_018410.5
p.F623L
c.1869C>G
1 paper
NM_018410.5
p.F623L
c.1867T>C
1 paper
NM_018410.5
p.Q637delFs
c.1909_1910delTG
1 paper
NM_018410.5
p.K638R
c.1913A>G
1 paper
NM_018410.5
p.G606A
c.1817G>C
1 paper
NM_018410.5
p.S653A
c.1957T>G
1 paper
NM_018410.5
p.P659_S660del1
c.1977_1979delGAA
1 paper
NM_018410.5
p.A665insFs
c.1993dupG
1 paper
NM_018410.5
p.A665fs
c.1993_1994fs
1 paper
NM_018410.5
p.G571D
c.1712G>A
1 paper
NM_018410.5
p.H676R
c.2027A>G
4 papers
NM_018410.5
p.E568D
c.1704A>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."