Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.Q73*

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.Q73*
c.217C>T
Surrounding Variants
1 paper
NM_032492.4
p.H65P
c.194A>C
2 papers
NM_032492.4
p.S64*
c.191C>A
2 papers
NM_032492.4
p.S64*
c.191C>G
2 papers
NM_032492.4
p.I82V
c.244A>G
1 paper
NM_032492.4
p.L63*
c.188T>A
1 paper
NM_032492.4
p.L83_L90del0
c.247_270del24
1 paper
NM_032492.4
p.L83_S85delFs
c.249_253del5
3 papers
NM_032492.4
p.P84A
c.250C>G
2 papers
NM_032492.4
p.P84R
c.251C>G
1 paper
NM_032492.4
p.R61_L62delins
c.183_184delinsCT
1 paper
NM_032492.4
p.S85P
c.253T>C
1 paper
NM_032492.4
p.L89P
c.266T>C
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