Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.G1420Splc

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.G1420Splc
c.4259-2A>G
Surrounding Variants
1 paper
NM_001409.4
p.C1434S
c.4300T>A
1 paper
NM_001409.4
p.C1434S
c.4301G>C
2 papers
NM_001409.4
p.G1438R
c.4312G>C
2 papers
NM_001409.4
p.G1438R
c.4312G>A
1 paper
NM_001409.4
p.G1438fs
c.4312_4313fs
1 paper
NM_001409.4
p.A1440fs
c.4318_4319fs
2 papers
NM_001409.4
p.A1440delFs
c.4318delC
1 paper
NM_001409.4
p.A1440fs
c.4318_4319fs
1 paper
NM_001409.4
p.C1442R
c.4324T>C
1 paper
NM_001409.4
p.P1444L
c.4331C>T
1 paper
NM_001409.4
p.R1455C
c.4363C>T
3 papers
NM_001409.4
p.H1413Y
c.4237C>T
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