Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.L374fs

GOLGA2

247 papers

RefSeq Summary

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interaction...

Pfam Domains

GOLGA2L5aa 381–908UCSCPutative golgin subfamily A member 2-like protein 5
GM130_Caa 953–998UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A2

HGNC Alias Symbols

GM130; golgin-95

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366244.2
p.L374fs
c.1120_1121fs
Surrounding Variants
1 paper
NM_001366244.2
p.G357S
c.1069G>A
1 paper
NM_001366244.2
p.Q332*
c.994C>T
1 paper
NM_001366244.2
p.R320fs
c.958_959fs
1 paper
NM_001366244.2
p.A388T
c.1162G>A
1 paper
NM_001366244.2
p.S412A
c.1234T>G
1 paper
NM_001366244.2
p.V413insFs
c.1238_1239insA
1 paper
NM_001366244.2
p.K422R
c.1265A>G
1 paper
NM_001366244.2
p.D421_K422delFs
c.1263_1266del4
1 paper
NM_001366244.2
p.K422_Y423delFs
c.1266_1269del4
3 papers
NM_004486.6
p.E423fs
c.1267_1268fs
2 papers
NM_004486.6
p.R422_E423delFs
c.1266_1269del4
1 paper
NM_001366244.2
p.E461*
c.1381G>T
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