Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP2
Variant:p.S101S

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
Selected Variant
1 paper
NM_001270941.2
p.S101S
c.303A>C
Surrounding Variants
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.V68M
c.202G>A
2 papers
NM_001270941.2
p.R138W
c.412C>T
1 paper
NM_001270941.2
p.R64H
c.191G>A
1 paper
NM_001270941.2
p.R142Q
c.425G>A
1 paper
NM_001270941.2
p.E155K
c.463G>A
1 paper
NM_001270941.2
p.I156T
c.467T>C
1 paper
NM_001270941.2
p.I195F
c.583A>T
1 paper
NM_001270941.2
p.S196L
c.587C>T
1 paper
NM_001270941.2
p.R207W
c.619C>T
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