Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.S473F

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.S473F
c.1418C>T
Surrounding Variants
1 paper
NM_001134382.3
p.S473S
c.1419C>T
1 paper
NM_001134382.3
p.I469I
c.1407C>T
1 paper
NM_001134382.3
p.T485M
c.1454C>T
1 paper
NM_001134382.3
p.S487S
c.1461C>T
1 paper
NM_001134382.3
p.Y491_H492del2
c.1471_1475del6
1 paper
NM_001134382.3
p.S449_D450del2
c.1345_1349del6
1 paper
NM_001134382.3
p.R443Q
c.1328G>A
1 paper
NM_001134382.3
p.R510H
c.1529G>A
1 paper
NM_001134382.3
p.Y514*
c.1542C>G
1 paper
NM_001134382.3
p.P430S
c.1288C>T
1 paper
NM_001330619.3
p.R321K
c.962G>A
1 paper
NM_001134382.3
p.P427L
c.1280C>T
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