Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8M
Variant:p.S553F

GOLGA8M

31 papers

Pfam Domains

GOLGA2L5aa 226–375UCSCPutative golgin subfamily A member 2-like protein 5
GOLGA2L5aa 365–518UCSCPutative golgin subfamily A member 2-like protein 5
GM130_Caa 593–632UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A8 family member M

HGNC Previous Name

golgin A8 family, member M

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001282468.3
p.S553F
c.1658C>T
Surrounding Variants
2 papers
NM_001282468.3
p.S553P
c.1657T>C
1 paper
NM_001282468.3
p.G523D
c.1568G>A
1 paper
NM_001282468.3
p.P602L
c.1805C>T
1 paper
NM_001282468.3
p.R502C
c.1504C>T
1 paper
NM_001282468.3
p.V473L
c.1417G>T
1 paper
NM_001282468.3
p.V473L
c.1417G>C
1 paper
NM_001282468.3
p.D468E
c.1404C>G
1 paper
NM_001282468.3
p.D468E
c.1404C>A
1 paper
NM_001282468.3
p.F459V
c.1375T>G
1 paper
NM_001282468.3
p.E435D
c.1305G>T
1 paper
NM_001282468.3
p.E435D
c.1305G>C
1 paper
NM_001282468.3
p.G429del1
c.1285_1286delTCC
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