Varaico: Literature-Extracted Genetic Variants

Gene:AJM1
Variant:p.R332H

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
Selected Variant
1 paper
NM_001080482.5
p.R332H
c.995G>A
Surrounding Variants
1 paper
NM_001080482.5
p.P335L
c.1004C>T
1 paper
NM_001080482.5
p.G346_L354del9
c.1036_1061del27
1 paper
NM_001080482.5
p.E313K
c.937G>A
1 paper
NM_001080482.5
p.R308S
c.924G>C
1 paper
NM_001080482.5
p.R308S
c.924G>T
1 paper
NM_001080482.5
p.R359C
c.1075C>T
1 paper
NM_001080482.5
p.R372H
c.1115G>A
1 paper
NM_001080482.5
p.E377G
c.1130A>G
1 paper
NM_001080482.5
p.V387I
c.1159G>A
1 paper
NM_001080482.5
p.R268H
c.803G>A
1 paper
NM_001080482.5
p.L258L
c.772C>T
1 paper
NM_001080482.5
p.G256W
c.766G>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."