Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8H
Variant:p.Q6_H7del2

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.Q6_H7del2
c.16_20del6
Surrounding Variants
1 paper
NM_001282490.2
p.A2_E3delFs
c.6_7delAG
1 paper
NM_001282490.2
p.A2fs
c.4_5fs
1 paper
NM_001282490.2
p.A30V
c.89C>T
2 papers
NM_001282490.2
p.V42I
c.124G>A
1 paper
NM_001282490.2
p.R89T
c.266G>C
1 paper
NM_001282490.2
p.G143delFs
c.428delG
1 paper
NM_001282490.2
p.E161Splc
c.482-12T>C
2 papers
NM_001282490.2
p.C169R
c.505T>C
1 paper
NM_001282490.2
p.C169C
c.507C>T
1 paper
NM_001282490.2
p.R176H
c.527G>A
1 paper
NM_001282490.2
p.Q226_L227Splc
c.678+1G>A
1 paper
NM_001282490.2
p.E248K
c.742G>A
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