Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8J
Variant:p.D56_S57Splc

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
1 paper
NM_001282472.2
p.D56_S57Splc
c.168+5G>A
Surrounding Variants
1 paper
NM_001282472.2
p.S25R
c.75C>A
1 paper
NM_001282472.2
p.S25R
c.75C>G
1 paper
NM_001282472.2
p.S25R
c.73A>C
1 paper
NM_001282472.2
p.M188T
c.563T>C
1 paper
NM_001282472.2
p.M188I
c.564G>A
1 paper
NM_001282472.2
p.M188I
c.564G>C
1 paper
NM_001282472.2
p.M188I
c.564G>T
1 paper
NM_001282472.2
p.Q233H
c.699A>C
1 paper
NM_001282472.2
p.Q233H
c.699A>T
1 paper
NM_001282472.2
p.Q254*
c.760C>T
1 paper
NM_001282472.2
p.K279Q
c.835A>C
1 paper
NM_001282472.2
p.P294L
c.881C>T
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