Varaico: Literature-Extracted Genetic Variants

Gene:AJM1

AJM1

42 papers

Pfam Domains

Ajm-1aa 711–827UCSCApical junction molecule ajm-1 alpha/beta domain
AJM1_Caa 873–974UCSCApical junction component 1 C-terminal domain

Gene Aliases

HGNC Name

apical junction component 1 homolog

HGNC Previous Symbol

C9orf172

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
1 paper
NM_001080482.5
p.M1L
c.1A>C
1 paper
NM_001080482.5
p.M1L
c.1A>T
1 paper
NM_001080482.5
p.P25L
c.74C>T
1 paper
NM_001080482.5
p.R34R
c.100C>A
1 paper
NM_001080482.5
p.F45L
c.133T>C
1 paper
NM_001080482.5
p.F45L
c.135C>A
1 paper
NM_001080482.5
p.F45L
c.135C>G
1 paper
NM_001080482.5
p.S109P
c.325T>C
1 paper
NM_001080482.5
p.R116_R118del0
c.346_354del9
1 paper
NM_001080482.5
p.A123V
c.368C>T
1 paper
NM_001080482.5
p.V161F
c.481G>T
1 paper
NM_001080482.5
p.H183R
c.548A>G
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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."