Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.Q715_L716del1

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.Q715_L716del1
c.2144_2146delACT
Surrounding Variants
3 papers
NM_001366244.2
p.Q715_L716del2
c.2143_2147del6
1 paper
NM_001366244.2
p.Q707_Q708del1
c.2121_2123delTGC
1 paper
NM_001366244.2
p.Q707_Q708del2
c.2119_2123del6
1 paper
NM_001366244.2
p.G723_E724del1
c.2169_2171delTCC
1 paper
NM_001366244.2
p.G723_E724del2
c.2167_2171del6
1 paper
NM_001366244.2
p.L702_A704del0
c.2105_2110del6
1 paper
NM_001366244.2
p.D640N
c.1918G>A
1 paper
NM_001366244.2
p.E734K
c.2200G>A
1 paper
NM_004486.6
p.E715_A716del1
c.2144_2146delCCT
1 paper
NM_001366244.2
p.M750I
c.2250G>C
1 paper
NM_001366244.2
p.P751S
c.2251C>T
1 paper
NM_004486.6
p.Q751*
c.2251C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."