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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EMB

Variant:p.P5P

EMB

41 papers

RefSeq Summary

This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between ...

Pfam Domains

I-setaa 159–254UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

embigin

HGNC Alias Symbols

MGC71745; GP70

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr5:50441137 G>A

NM_198449.3

p.P5P

c.15C>T

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=15, hom=0)59 overlapping SVs

Surrounding Variants

1 paper

chr5:50441150 A>G

NM_198449.3

p.M1T

c.2T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a59 overlapping SVs

1 paper

chr5:50441151 T>A

NM_198449.3

p.M1L

c.1A>T

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=4, hom=0)59 overlapping SVs

1 paper

chr5:50441151 T>C

NM_198449.3

p.M1V

c.1A>G

Exome: 0.0% (AC=13, hom=0)Genome: n/a59 overlapping SVs

1 paper

chr5:50441151 T>G

NM_198449.3

p.M1L

c.1A>C

Exome: 0.0% (AC=3, hom=0)Genome: n/a59 overlapping SVs

1 paper

chr5:50441120 C>T

NM_198449.3

p.R11K

c.32G>A

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=3, hom=0)59 overlapping SVs

1 paper

chr5:50441117 G>A

NM_198449.3

p.A12V

c.35C>T

Exome: 0.0% (AC=81, hom=0)Genome: 0.0% (AC=16, hom=0)59 overlapping SVs

1 paper

chr5:50441105 C>G

NM_198449.3

p.R16P

c.47G>C

Exome: 0.0% (AC=144, hom=1)Genome: 0.0% (AC=2, hom=0)59 overlapping SVs

1 paper

chr5:50441050 G>A

NM_198449.3

p.G34G

c.102C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a59 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."