Varaico: Literature-Extracted Genetic Variants

Gene:ERGIC2
Variant:p.H208D

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
Selected Variant
1 paper
NM_016570.3
p.H208D
c.622C>G
Surrounding Variants
1 paper
NM_016570.3
p.V272M
c.814G>A
1 paper
NM_016570.3
p.R275_E276Splc
c.826-150C>T
1 paper
NM_016570.3
p.E307*
c.919G>T
1 paper
NM_016570.3
p.Q313R
c.938A>G
1 paper
NM_016570.3
p.F315insFs
c.945dupT
1 paper
NM_016570.3
p.V316fs
c.946_947fs
1 paper
NM_016570.3
p.R317I
c.950G>T
1 paper
NM_016570.3
p.S151G
c.451A>G
2 papers
NM_016570.3
p.N374S
c.1121A>G
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