Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.E266K

IQSEC1

85 papers

Pfam Domains

Sec7aa 618–806UCSCSec7 domain
IQ_SEC7_PHaa 837–973UCSCPH domain

Gene Aliases

HGNC Name

IQ motif and Sec7 domain ArfGEF 1

HGNC Alias Symbols

KIAA0763; GEP100; BRAG2; ARF-GEP100

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134382.3
p.E266K
c.796G>A
Surrounding Variants
1 paper
NM_001134382.3
p.T265_E266delFs
c.795_796delCG
1 paper
NM_001134382.3
p.D264_T265del2
c.790_794del6
1 paper
NM_001330619.3
p.T161A
c.481A>G
1 paper
NM_001134382.3
p.G273_M282del10
c.817_845del30
1 paper
NM_001134382.3
p.I240_D241del2
c.718_722del6
1 paper
NM_001134382.3
p.E295E
c.885G>A
1 paper
NM_001134382.3
p.D220D
c.660C>T
1 paper
NM_001134382.3
p.S312F
c.935C>T
1 paper
NM_001134382.3
p.S312fs
c.934_935fs
1 paper
NM_001134382.3
p.S316*
c.947C>A
2 papers
NM_001134382.3
p.R321Q
c.962G>A
NM_001330619.3
p.R213Q
c.638G>A
1 paper
NM_001134382.3
p.D328H
c.982G>C
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