Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.F17L

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
Selected Variant
1 paper
NM_032492.4
p.F17L
c.51T>A
Surrounding Variants
1 paper
NM_032492.4
p.F17L
c.51T>G
1 paper
NM_032492.4
p.F17L
c.49T>C
6 papers
NM_032492.4
p.R20Q
c.59G>A
11 papers
NM_032492.4
p.G14S
c.40G>A
13 papers
NM_032492.4
p.E21D
c.63G>C
14 papers
NM_032492.4
p.E21D
c.63G>T
2 papers
NM_032492.4
p.G14del1
c.40_41delGGC
1 paper
NM_032492.4
p.R22H
c.65G>A
2 papers
NM_032492.4
p.D13fs
c.37_38fs
2 papers
NM_032492.4
p.T12delFs
c.36delC
1 paper
NM_032492.4
p.A24T
c.70G>A
1 paper
NM_032492.4
p.A10G
c.29C>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."