Varaico: Literature-Extracted Genetic Variants

Gene:HJURP
Variant:p.S489A

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.S489A
c.1465T>G
Surrounding Variants
1 paper
NM_018410.5
p.G479D
c.1436G>A
1 paper
NM_018410.5
p.G469R
c.1405G>C
1 paper
NM_018410.5
p.G469R
c.1405G>A
1 paper
NM_018410.5
p.N528S
c.1583A>G
1 paper
NM_018410.5
p.Q440R
c.1319A>G
1 paper
NM_018410.5
p.V544I
c.1630G>A
2 papers
NM_018410.5
p.S548T
c.1643G>C
1 paper
NM_018410.5
p.S549F
c.1646C>T
4 papers
NM_018410.5
p.S549C
c.1646C>G
1 paper
NM_018410.5
p.H426Y
c.1276C>T
1 paper
NM_018410.5
p.V556M
c.1666G>A
1 paper
NM_018410.5
p.P413L
c.1238C>T
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