Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.R573H

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.R573H
c.1718G>A
Surrounding Variants
1 paper
NM_001134382.3
p.I533I
c.1599C>T
1 paper
NM_001134382.3
p.K523Splc
c.1569-12G>A
1 paper
NM_001134382.3
p.M588L
c.1762A>T
1 paper
NM_001134382.3
p.M588L
c.1762A>C
1 paper
NM_014869.8
p.E606K
c.1816G>A
1 paper
NM_001134382.3
p.A593V
c.1778C>T
1 paper
NM_001134382.3
p.E606K
c.1816G>A
1 paper
NM_001134382.3
p.A607V
c.1820C>T
2 papers
NM_001134382.3
p.S618Splc
c.1854-5C>T
6 papers
NM_001134382.3
p.P626S
c.1876C>T
1 paper
NM_001134382.3
p.T637_I638ins4
c.1909_1913ins12
1 paper
NM_001134382.3
p.L648P
c.1943T>C
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