Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.P1135L

MEGF6

157 papers

Pfam Domains

FXa_inhibitionaa 60–95UCSCCoagulation Factor Xa inhibitory site
cEGFaa 119–139UCSCComplement Clr-like EGF-like
EGF_CAaa 180–219UCSCCalcium-binding EGF domain
FXa_inhibitionaa 230–265UCSCCoagulation Factor Xa inhibitory site
EGF_CAaa 267–305UCSCCalcium-binding EGF domain
EGF_CAaa 307–346UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 6

HGNC Previous Symbol

EGFL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001409.4
p.P1135L
c.3404C>T
Surrounding Variants
6 papers
NM_001409.4
p.G1137A
c.3410G>C
1 paper
NM_001409.4
p.C1147Y
c.3440G>A
1 paper
NM_001409.4
p.R1148C
c.3442C>T
1 paper
NM_001409.4
p.Q1173*
c.3517C>T
1 paper
NM_001409.4
p.Q1176*
c.3526C>T
1 paper
NM_001409.4
p.C1184S
c.3550T>A
1 paper
NM_001409.4
p.C1184S
c.3551G>C
1 paper
NM_001409.4
p.H1185D
c.3553C>G
1 paper
NM_001409.4
p.C1191Y
c.3572G>A
1 paper
NM_001409.4
p.R1205*
c.3613C>T
2 papers
NM_001409.4
p.R1205Splc
c.3613+1G>A
1 paper
NM_001409.4
p.R1205*
c.3613C>T
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