Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8J
Variant:p.R502H

GOLGA8J

30 papers

Pfam Domains

GOLGA2L5aa 226–374UCSCPutative golgin subfamily A member 2-like protein 5
GOLGA2L5aa 364–519UCSCPutative golgin subfamily A member 2-like protein 5
GM130_Caa 593–632UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A8 family member J

HGNC Previous Name

golgin A8 family, member J

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001282472.2
p.R502H
c.1505G>A
Surrounding Variants
1 paper
NM_001282472.2
p.R502C
c.1504C>T
1 paper
NM_001282472.2
p.G500R
c.1498G>A
1 paper
NM_001282472.2
p.G500R
c.1498G>C
1 paper
NM_001282472.2
p.G510E
c.1529G>A
1 paper
NM_001282472.2
p.H493H
c.1479T>C
1 paper
NM_001282472.2
p.G523Splc
c.1567+6G>T
1 paper
NM_001282472.2
p.H483R
c.1448A>G
1 paper
NM_001282472.2
p.I481S
c.1442T>G
2 papers
NM_001282472.2
p.A534E
c.1601C>A
1 paper
NM_001282472.2
p.N540N
c.1620C>T
1 paper
NM_001282472.2
p.A549S
c.1645G>T
1 paper
NM_001282472.2
p.N552D
c.1654A>G
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