Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.V158M

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.V158M
c.472G>A
Surrounding Variants
2 papers
NM_032492.4
p.V158E
c.473T>A
1 paper
NM_032492.4
p.Q157R
c.470A>G
1 paper
NM_032492.4
p.H159R
c.476A>G
1 paper
NM_032492.4
p.Q162*
c.484C>T
7 papers
NM_032492.4
p.Q162R
c.485A>G
1 paper
NM_032492.4
p.S166C
c.496A>T
1 paper
NM_032492.4
p.K168N
c.504G>C
1 paper
NM_032492.4
p.K168N
c.504G>T
1 paper
NM_032492.4
p.L170_D171insFs
c.510_511insA
1 paper
NM_032492.4
p.L170L
c.510A>T
1 paper
NM_032492.4
p.V145I
c.433G>A
1 paper
NM_032492.4
p.D171N
c.511G>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."