Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.I234V

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
3 papers
NM_001033047.3
p.I234V
c.700A>G
Surrounding Variants
1 paper
NM_001033047.3
p.C231fs
c.691_692fs
3 papers
NM_001033047.3
p.Y238*
c.714C>A
3 papers
NM_001033047.3
p.Y238*
c.714C>G
3 papers
NM_001184690.2
p.C259insFs
c.777dupT
3 papers
NM_001184690.2
p.K260*
c.778A>T
1 paper
NM_001033047.3
p.G245R
c.733G>A
1 paper
NM_001033047.3
p.G245R
c.733G>C
1 paper
NM_001033047.3
p.F183C
c.548T>G
1 paper
NM_001033047.3
p.R182I
c.545G>T
1 paper
NM_001033047.3
p.R177K
c.530G>A
1 paper
NM_001033047.3
p.C173_A174insC
c.517_521ins3
1 paper
NM_001033047.3
p.C173_S179del0
c.518_535del18
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