Varaico: Literature-Extracted Genetic Variants

Gene:GCN1
Variant:p.S1665L

GCN1

155 papers

Pfam Domains

GNC1_Naa 220–353UCSCStalled ribosome sensor GCN1 N-terminal
HEAT_GCN1_2aa 1117–1328UCSCStalled ribosome sensor GCN1, HEAT repeats
HEAT_EF3_GNC1aa 1591–1695UCSCElongation factor 3/GNC1 HEAT repeat
HEAT_GCN1_Caa 2482–2635UCSCGCN1-like, C-terminal HEAT repeats

Gene Aliases

HGNC Name

GCN1 activator of EIF2AK4

HGNC Previous Symbol

GCN1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006836.2
p.S1665L
c.4994C>T
Surrounding Variants
1 paper
NM_006836.2
p.R1674Q
c.5021G>A
1 paper
NM_006836.2
p.L1700L
c.5100G>A
1 paper
NM_006836.2
p.S1714L
c.5141C>T
1 paper
NM_006836.2
p.R1713_A1717del5
c.5137_5150del15
1 paper
NM_006836.2
p.A1721S
c.5161G>T
1 paper
NM_006836.2
p.A1725A
c.5175C>T
1 paper
NM_006836.2
p.E1738G
c.5213A>G
1 paper
NM_006836.2
p.V1740M
c.5218G>A
1 paper
NM_006836.2
p.Y1756H
c.5266T>C
1 paper
NM_006836.2
p.P1780S
c.5338C>T
1 paper
NM_006836.2
p.A1787delFs
c.5359delC
1 paper
NM_006836.2
p.A1787fs
c.5359_5360fs
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