Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.R137S

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.R137S
c.409C>A
Surrounding Variants
1 paper
NM_032492.4
p.G141R
c.421G>C
1 paper
NM_032492.4
p.H132Y
c.394C>T
1 paper
NM_032492.4
p.A144insFs
c.430dupG
1 paper
NM_032492.4
p.Y130_R131insA
c.388_392ins3
1 paper
NM_032492.4
p.V145I
c.433G>A
1 paper
NM_032492.4
p.Q127*
c.379C>T
1 paper
NM_032492.4
p.A126V
c.377C>T
1 paper
NM_032492.4
p.E121*
c.361G>T
1 paper
NM_032492.4
p.S119C
c.355A>T
1 paper
NM_032492.4
p.Y117_S119delFs
c.351_357del7
1 paper
NM_032492.4
p.Q157R
c.470A>G
1 paper
NM_032492.4
p.I116_Y117delFs
c.347_351del5
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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."