Varaico: Literature-Extracted Genetic Variants

Gene:DEF8
Variant:p.L365P

DEF8

20 papers

Pfam Domains

C1_1aa 200–253UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 200–253UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 200–253UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
RH_domaa 295–497UCSCRubicon Homology Domain

Gene Aliases

HGNC Name

differentially expressed in FDCP 8 homolog

HGNC Alias Symbol

FLJ20186

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242818.2
p.L365P
c.1094T>C
Surrounding Variants
1 paper
NM_001242818.2
p.L365F
c.1093C>T
1 paper
NM_001242818.2
p.G359delFs
c.1077delC
1 paper
NM_001242818.2
p.G359fs
c.1075_1076fs
1 paper
NM_001242818.2
p.A358insFs
c.1073_1074ins14
1 paper
NM_001242818.2
p.A358fs
c.1072_1073fs
1 paper
NM_001242818.2
p.V415I
c.1243G>A
1 paper
NM_001242818.2
p.R258H
c.773G>A
1 paper
NM_001242818.2
p.N203N
c.609C>T
1 paper
NM_001242818.2
p.S179I
c.536G>T
1 paper
NM_001242818.2
p.P131L
c.392C>T
1 paper
NM_001242818.2
p.P131S
c.391C>T
1 paper
NM_001242818.2
p.Q121R
c.362A>G
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