Varaico: Literature-Extracted Genetic Variants

Gene:NPNT
Variant:p.V259insFs

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
2 papers
NM_001033047.3
p.V259insFs
c.777dupT
Surrounding Variants
1 paper
NM_001033047.3
p.K278N
c.834G>C
1 paper
NM_001033047.3
p.K278N
c.834G>T
1 paper
NM_001033047.3
p.W286L
c.857G>T
1 paper
NM_001033047.3
p.T293A
c.877A>G
1 paper
NM_001033047.3
p.T319P
c.955A>C
1 paper
NM_001033047.3
p.P329_P330del2
c.985_989del6
1 paper
NM_001033047.3
p.T336P
c.1006A>C
2 papers
NM_001033047.3
p.T346N
c.1037C>A
1 paper
NM_001033047.3
p.G367R
c.1099G>A
1 paper
NM_001033047.3
p.N372D
c.1114A>G
1 paper
NM_001033047.3
p.P381L
c.1142C>T
1 paper
NM_001033047.3
p.G245R
c.733G>A
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