Varaico: Literature-Extracted Genetic Variants

Gene:VEPH1
Variant:p.E302_E303Splc

VEPH1

75 papers

Pfam Domains

PHaa 717–819UCSCPH domain

Gene Aliases

HGNC Name

ventricular zone expressed PH domain containing 1

HGNC Alias Symbols

FLJ12604; KIAA1692

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167912.2
p.E302_E303Splc
c.907-7524A>G
Surrounding Variants
1 paper
NM_001167912.2
p.C308_L309insAA
c.922_926ins6
1 paper
NM_001167912.2
p.C308_L309ins10
c.922_926ins30
2 papers
NM_001167912.2
p.E330delFs
c.988delC
2 papers
NM_001167912.2
p.S333I
c.998G>T
3 papers
NM_001167912.2
p.D336N
c.1006G>A
1 paper
NM_001167912.2
p.L342S
c.1025T>C
1 paper
NM_001167912.2
p.L342F
c.1026G>T
1 paper
NM_001167912.2
p.L342F
c.1026G>C
1 paper
NM_001167912.2
p.N354N
c.1062C>T
1 paper
NM_001167912.2
p.G373*
c.1117G>T
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