Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.V52A

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.V52A
c.155T>C
Surrounding Variants
1 paper
NM_032492.4
p.K54*
c.160A>T
1 paper
NM_032492.4
p.M55V
c.163A>G
1 paper
NM_032492.4
p.L45V
c.133C>G
1 paper
NM_032492.4
p.H44insFs
c.130_131insA
8 papers
NM_032492.4
p.H44Y
c.130C>T
1 paper
NM_032492.4
p.V43G
c.128T>G
1 paper
NM_032492.4
p.R61_L62delins
c.183_184delinsCT
1 paper
NM_032492.4
p.L63*
c.188T>A
2 papers
NM_032492.4
p.S64*
c.191C>A
2 papers
NM_032492.4
p.S64*
c.191C>G
1 paper
NM_032492.4
p.H65P
c.194A>C
3 papers
NM_032492.4
p.Y35_V43del9
c.103_128del27
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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."