Varaico: Literature-Extracted Genetic Variants

Gene:ACBD3
Variant:p.E187D

ACBD3

67 papers

RefSeq Summary

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structu...

Pfam Domains

ACBPaa 84–165UCSCAcyl CoA binding protein
GOLD_2aa 397–527UCSCGolgi-dynamics membrane-trafficking

Gene Aliases

HGNC Name

acyl-CoA binding domain containing 3

HGNC Previous Symbols

GOLPH1; GOCAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_022735.4
p.E187D
c.561A>C
Surrounding Variants
7 papers
NM_022735.4
p.E187D
c.561A>T
1 paper
NM_022735.4
p.E187K
c.559G>A
1 paper
NM_022735.4
p.R190fs
c.568_569fs
1 paper
NM_022735.4
p.R190delFs
c.568delT
1 paper
NM_022735.4
p.F161Y
c.482T>A
2 papers
NM_022735.4
p.K154E
c.460A>G
1 paper
NM_022735.4
p.W146*
c.438G>A
1 paper
NM_022735.4
p.W146*
c.437G>A
1 paper
NM_022735.4
p.R142K
c.425G>A
1 paper
NM_022735.4
p.V132I
c.394G>A
1 paper
NM_022735.4
p.L110_K111delFs
c.328_331del4
1 paper
NM_022735.4
p.L110M
c.328T>A
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