Varaico: Literature-Extracted Genetic Variants

Gene:ERGIC2

ERGIC2

22 papers

RefSeq Summary

ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008].

Pfam Domains

ERGIC_Naa 13–101UCSCEndoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)
COPIIcoated_ERVaa 135–333UCSCEndoplasmic reticulum vesicle transporter

Gene Aliases

HGNC Name

ERGIC and golgi 2

HGNC Alias Symbols

PTX1; Erv41

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
2 papers
NM_016570.3
p.N374S
c.1121A>G
1 paper
NM_016570.3
p.K7E
c.19A>G
1 paper
NM_016570.3
p.K7T
c.20A>C
1 paper
NM_016570.3
p.L12*
c.35T>A
1 paper
NM_016570.3
p.M44I
c.132G>A
1 paper
NM_016570.3
p.V54V
c.162A>G
1 paper
NM_016570.3
p.K68E
c.202A>G
1 paper
NM_016570.3
p.T81T
c.243T>C
1 paper
NM_016570.3
p.V93I
c.277G>A
1 paper
NM_016570.3
p.S151G
c.451A>G
1 paper
NM_016570.3
p.H208D
c.622C>G
1 paper
NM_016570.3
p.V272M
c.814G>A
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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."