Varaico: Literature-Extracted Genetic Variants

Gene:EGFL8
Variant:p.C148R

EGFL8

32 papers

Pfam Domains

EMIaa 35–102UCSCEMI domain
EGF_PEAR1Laa 107–153UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain

Gene Aliases

HGNC Name

EGF like domain multiple 8

HGNC Alias Symbol

NG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030652.4
p.C148R
c.442T>C
Surrounding Variants
1 paper
NM_030652.4
p.R149W
c.445A>T
1 paper
NM_030652.4
p.D146G
c.437A>G
1 paper
NM_030652.4
p.F166L
c.496T>C
1 paper
NM_030652.4
p.F166L
c.498C>A
1 paper
NM_030652.4
p.F166L
c.498C>G
1 paper
NM_030652.4
p.H172delFs
c.514delC
1 paper
NM_030652.4
p.P171L
c.512C>T
1 paper
NM_030652.4
p.H172fs
c.514_515fs
1 paper
NM_030652.4
p.P134L
c.401C>T
1 paper
NM_030652.4
p.V201Splc
c.602-2A>G
1 paper
NM_030652.4
p.A204V
c.611C>T
1 paper
NM_030652.4
p.A204A
c.612G>A
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