Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1

JAGN1

65 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in ...

Pfam Domains

Jagunalaa 1–177UCSCJagunal, ER re-organisation during oogenesis

Gene Aliases

HGNC Name

jagunal vesicle mediated transporter 1

HGNC Alias Symbols

GL009; FLJ14602

Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
14 papers
NM_032492.4
p.E21D
c.63G>T
13 papers
NM_032492.4
p.E21D
c.63G>C
11 papers
NM_032492.4
p.G14S
c.40G>A
8 papers
NM_032492.4
p.M1I
c.3G>A
8 papers
NM_032492.4
p.H44Y
c.130C>T
7 papers
NM_032492.4
p.Q162R
c.485A>G
6 papers
NM_032492.4
p.M1I
c.3G>C
6 papers
NM_032492.4
p.M1I
c.3G>T
6 papers
NM_032492.4
p.T12_S15del0
c.35_43del9
6 papers
NM_032492.4
p.R20Q
c.59G>A
6 papers
NM_032492.4
p.Y99*
c.297C>G
4 papers
NM_032492.4
p.Y99*
c.297C>A
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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."