Varaico: Literature-Extracted Genetic Variants

Gene:GCN1
Variant:p.T1050M

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
2 papers
NM_006836.2
p.T1050M
c.3149C>T
Surrounding Variants
1 paper
NM_006836.2
p.L1055L
c.3165A>G
1 paper
NM_006836.2
p.P1032L
c.3095C>T
1 paper
NM_006836.2
p.R1099W
c.3295C>T
1 paper
NM_006836.2
p.E999K
c.2995G>A
1 paper
NM_006836.2
p.T990T
c.2970G>A
1 paper
NM_006836.2
p.P972L
c.2915C>T
1 paper
NM_006836.2
p.R1128Q
c.3383G>A
1 paper
NM_006836.2
p.V1132V
c.3396G>A
1 paper
NM_006836.2
p.R1147Splc
c.3441-2A>G
1 paper
NM_006836.2
p.G966W
c.2896G>T
1 paper
NM_006836.2
p.L1160L
c.3480C>G
2 papers
NM_006836.2
p.S1162F
c.3485C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."