Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.Q159H

NPNT

60 papers

Pfam Domains

EGF_PEAR1Laa 52–111UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain
EGF_CAaa 169–212UCSCCalcium-binding EGF domain
EGF_3aa 218–253UCSCEGF domain
MAMaa 422–562UCSCMAM domain, meprin/A5/mu

Gene Aliases

HGNC Name

nephronectin

HGNC Alias Symbols

EGFL6L; POEM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001033047.3
p.Q159H
c.477G>T
Surrounding Variants
5 papers
NM_001033047.3
p.Q159H
c.477G>C
1 paper
NM_001033047.3
p.P156L
c.467C>T
1 paper
NM_001033047.3
p.P154Q
c.461C>A
1 paper
NM_001033047.3
p.T132insFs
c.395_396insT
2 papers
NM_001033047.3
p.M122T
c.365T>C
1 paper
NM_001033047.3
p.G118R
c.352G>A
1 paper
NM_001033047.3
p.G118R
c.352G>C
1 paper
NM_001033047.3
p.S110delFs
c.329_330delGC
1 paper
NM_001033047.3
p.P97S
c.289C>T
1 paper
NM_001033047.3
p.L95L
c.283C>T
1 paper
NM_001033047.3
p.V170F
c.508G>T
1 paper
NM_001033047.3
p.C173_S179del0
c.518_535del18
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