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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERGIC2

Variant:p.L12*

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:29371599 A>T

NM_016570.3

p.L12*

c.35T>A

exact variant not in gnomAD18 overlapping SVs

Surrounding Variants

1 paper

chr12:29371614 T>G

NM_016570.3

p.K7T

c.20A>C

exact variant not in gnomAD18 overlapping SVs

1 paper

chr12:29371615 T>C

NM_016570.3

p.K7E

c.19A>G

exact variant not in gnomAD18 overlapping SVs

1 paper

chr12:29370197 C>T

NM_016570.3

p.M44I

c.132G>A

ERGIC_N

Exome: 0.0% (AC=5, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr12:29370167 T>C

NM_016570.3

p.V54V

c.162A>G

ERGIC_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr12:29370127 T>C

NM_016570.3

p.K68E

c.202A>G

ERGIC_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr12:29368260 A>G

NM_016570.3

p.T81T

c.243T>C

ERGIC_N

Exome: 14.1% (AC=197970, hom=14750)Genome: 14.3% (AC=21637, hom=1576)18 overlapping SVs

1 paper

chr12:29366933 C>T

NM_016570.3

p.V93I

c.277G>A

ERGIC_N

Exome: 0.0% (AC=2, hom=0)Genome: n/a18 overlapping SVs

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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."