Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.L102P

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.L102P
c.305T>C
Surrounding Variants
1 paper
NM_032492.4
p.V101V
c.303G>A
1 paper
NM_032492.4
p.V101E
c.302T>A
4 papers
NM_032492.4
p.Y99*
c.297C>A
6 papers
NM_032492.4
p.Y99*
c.297C>G
1 paper
NM_032492.4
p.M107I
c.321G>A
1 paper
NM_032492.4
p.F110_S111delFs
c.330_331delTT
1 paper
NM_032492.4
p.R94L
c.281G>T
1 paper
NM_032492.4
p.S111fs
c.331_332fs
1 paper
NM_032492.4
p.P93L
c.278C>T
1 paper
NM_032492.4
p.L89P
c.266T>C
1 paper
NM_032492.4
p.I116_Y117delFs
c.347_351del5
1 paper
NM_032492.4
p.Y117_S119delFs
c.351_357del7
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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."