Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8K
Variant:p.K606Q

GOLGA8K

40 papers

Pfam Domains

GOLGA2L5aa 226–396UCSCPutative golgin subfamily A member 2-like protein 5
GOLGA2L5aa 365–514UCSCPutative golgin subfamily A member 2-like protein 5
GM130_Caa 591–630UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A8 family member K

HGNC Previous Name

golgin A8 family, member K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001282493.2
p.K606Q
c.1816A>C
Surrounding Variants
1 paper
NM_001282493.2
p.K606E
c.1816A>G
3 papers
NM_001282493.2
p.H605N
c.1813C>A
1 paper
NM_001282493.2
p.D573Splc
c.1717+10G>A
1 paper
NM_001282493.2
p.H571Y
c.1711C>T
4 papers
NM_001282493.2
p.A568T
c.1702G>A
3 papers
NM_001282493.2
p.P551L
c.1652C>T
2 papers
NM_001282493.2
p.A526V
c.1577C>T
1 paper
NM_001282493.2
p.D519H
c.1555G>C
2 papers
NM_001282493.2
p.H492Q
c.1476C>G
2 papers
NM_001282493.2
p.H492Q
c.1476C>A
1 paper
NM_001282493.2
p.R486C
c.1456C>T
1 paper
NM_001282493.2
p.D484D
c.1452C>T
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