Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.P750delFs

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
2 papers
NM_001409.4
p.P750delFs
c.2250delG
Surrounding Variants
1 paper
NM_001409.4
p.C751fs
c.2251_2252fs
2 papers
NM_001409.4
p.A749fs
c.2245_2246fs
1 paper
NM_001409.4
p.A749V
c.2246C>T
1 paper
NM_001409.4
p.S745F
c.2234C>T
1 paper
NM_001409.4
p.S745C
c.2234C>G
1 paper
NM_001409.4
p.R759W
c.2275C>T
1 paper
NM_001409.4
p.P761L
c.2282C>T
1 paper
NM_001409.4
p.P761P
c.2283G>A
1 paper
NM_001409.4
p.G763A
c.2288G>C
1 paper
NM_001409.4
p.V738M
c.2212G>A
1 paper
NM_001409.4
p.C769fs
c.2305_2306fs
1 paper
NM_001409.4
p.P732L
c.2195C>T
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