Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8H
Variant:p.C577R

GOLGA8H

34 papers

Pfam Domains

GOLGA2L5aa 226–375UCSCPutative golgin subfamily A member 2-like protein 5
GOLGA2L5aa 365–519UCSCPutative golgin subfamily A member 2-like protein 5
GM130_Caa 593–632UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A8 family member H

HGNC Alias Symbol

GOLGA6L11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282490.2
p.C577R
c.1729T>C
Surrounding Variants
1 paper
NM_001282490.2
p.S580T
c.1739G>C
1 paper
NM_001282490.2
p.D575Splc
c.1723+4A>T
1 paper
NM_001282490.2
p.A506A
c.1518G>A
1 paper
NM_001282490.2
p.A503S
c.1507G>T
1 paper
NM_001282490.2
p.H493H
c.1479T>C
1 paper
NM_001282490.2
p.H489P
c.1466A>C
2 papers
NM_001282490.2
p.R485*
c.1453C>T
2 papers
NM_001282490.2
p.E464K
c.1390G>A
1 paper
NM_001282490.2
p.E435D
c.1305G>C
1 paper
NM_001282490.2
p.E435D
c.1305G>T
1 paper
NM_001282490.2
p.E430D
c.1290A>C
1 paper
NM_001282490.2
p.E430D
c.1290A>T
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