Varaico: Literature-Extracted Genetic Variants

Gene:JAKMIP2
Variant:p.Q230K

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.Q230K
c.688C>A
Surrounding Variants
1 paper
NM_001270941.2
p.V234A
c.701T>C
1 paper
NM_001270941.2
p.D245D
c.735C>T
1 paper
NM_001270941.2
p.R283I
c.848G>T
1 paper
NM_001270941.2
p.L312Q
c.935T>A
1 paper
NM_001270941.2
p.R315C
c.943C>T
1 paper
NM_001270941.2
p.L326F
c.976C>T
1 paper
NM_001270941.2
p.A334T
c.1000G>A
1 paper
NM_001270941.2
p.D338N
c.1012G>A
1 paper
NM_001270941.2
p.V342G
c.1025T>G
1 paper
NM_001270941.2
p.V354I
c.1060G>A
1 paper
NM_001270941.2
p.E363G
c.1088A>G
1 paper
NM_001270941.2
p.H368Y
c.1102C>T
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