Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.W46*

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
1 paper
NM_001033047.3
p.W46*
c.137G>A
Surrounding Variants
1 paper
NM_001033047.3
p.R50C
c.148C>T
1 paper
NM_001033047.3
p.G39R
c.115G>C
1 paper
NM_001033047.3
p.Q55H
c.165G>C
1 paper
NM_001033047.3
p.Q55H
c.165G>T
1 paper
NM_001033047.3
p.A19G
c.56C>G
1 paper
NM_001033047.3
p.V8M
c.22G>A
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