Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.M152L

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.M152L
c.454A>T
Surrounding Variants
1 paper
NM_001134382.3
p.M152L
c.454A>C
1 paper
NM_001134382.3
p.N150delFs
c.449_450delGT
1 paper
NM_001134382.3
p.N150del1
c.448_449delGTT
1 paper
NM_001134382.3
p.Q164*
c.490C>T
1 paper
NM_001134382.3
p.Q164delFs
c.491_492delCT
1 paper
NM_001134382.3
p.Q164del1
c.490_491delCTG
1 paper
NM_001134382.3
p.Y134insFs
c.401dupA
1 paper
NM_001134382.3
p.E179K
c.535G>A
1 paper
NM_001134382.3
p.G115fs
c.343_344fs
1 paper
NM_001134382.3
p.V196fs
c.586_587fs
1 paper
NM_001134382.3
p.C200Y
c.599G>A
1 paper
NM_001134382.3
p.D220D
c.660C>T
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