Varaico: Literature-Extracted Genetic Variants

Gene:HJURP
Variant:p.E11K

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.E11K
c.31G>A
Surrounding Variants
1 paper
NM_018410.5
p.M8V
c.22A>G
2 papers
NM_018410.5
p.D16E
c.48C>G
1 paper
NM_018410.5
p.T4T
c.12G>C
1 paper
NM_018410.5
p.M1I
c.3G>A
1 paper
NM_018410.5
p.K21E
c.61A>G
1 paper
NM_018410.5
p.M1V
c.1A>G
1 paper
NM_018410.5
p.L22P
c.65T>C
1 paper
NM_018410.5
p.R27P
c.80G>C
1 paper
NM_018410.5
p.M33R
c.98T>G
1 paper
NM_018410.5
p.R35R
c.105G>A
1 paper
NM_018410.5
p.K39E
c.115A>G
1 paper
NM_018410.5
p.Q42K
c.124C>A
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