Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP2

JAKMIP2

46 papers

RefSeq Summary

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural sca...

Pfam Domains

JAKMIP_CC3aa 409–602UCSCJAKMIP CC3 domain

Gene Aliases

HGNC Name

janus kinase and microtubule interacting protein 2

HGNC Alias Symbols

JAMIP2; KIAA0555

Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
2 papers
NM_001270941.2
p.R138W
c.412C>T
2 papers
NM_001270941.2
p.R507Q
c.1520G>A
1 paper
NM_001270941.2
p.R6Q
c.17G>A
1 paper
NM_001270941.2
p.R27S
c.81G>T
1 paper
NM_001270941.2
p.R27S
c.81G>C
1 paper
NM_001270941.2
p.R64H
c.191G>A
1 paper
NM_001270941.2
p.V68M
c.202G>A
1 paper
NM_001270941.2
p.S101S
c.303A>C
1 paper
NM_001270941.2
p.S116C
c.347C>G
1 paper
NM_001270941.2
p.D123Y
c.367G>T
1 paper
NM_001270941.2
p.I135T
c.404T>C
1 paper
NM_001270941.2
p.R142Q
c.425G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."