Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.Q354*

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.Q354*
c.1060C>T
Surrounding Variants
1 paper
NM_001134382.3
p.R353W
c.1057C>T
1 paper
NM_001134382.3
p.R359W
c.1075C>T
1 paper
NM_001134382.3
p.T343T
c.1029G>A
2 papers
NM_001330619.3
p.T235M
c.704C>T
NM_001134382.3
p.T343M
c.1028C>T
1 paper
NM_001134382.3
p.A339V
c.1016C>T
1 paper
NM_001134382.3
p.S372N
c.1115G>A
1 paper
NM_001134382.3
p.D328H
c.982G>C
2 papers
NM_001134382.3
p.R321Q
c.962G>A
NM_001330619.3
p.R213Q
c.638G>A
1 paper
NM_001134382.3
p.S316*
c.947C>A
1 paper
NM_001134382.3
p.S312fs
c.934_935fs
1 paper
NM_001134382.3
p.S312F
c.935C>T
1 paper
NM_001134382.3
p.G402D
c.1205G>A
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