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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EMB

Variant:p.L46L

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

1 paper

chr5:50428202 G>A

NM_198449.3

p.L46L

c.138C>T

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

Surrounding Variants

1 paper

chr5:50428206 G>A

NM_198449.3

p.P45L

c.134C>T

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

1 paper

chr5:50428186 C>T

NM_198449.3

p.A52T

c.154G>A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)59 overlapping SVs

1 paper

chr5:50428223 C>T

NM_198449.3

p.S39S

c.117G>A

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=11, hom=0)59 overlapping SVs

2 papers

chr5:50428224 G>A

NM_198449.3

p.S39L

c.116C>T

Exome: 0.5% (AC=6579, hom=37)Genome: 0.4% (AC=684, hom=3)59 overlapping SVs

1 paper

chr5:50428170 A>T

NM_198449.3

p.L57*

c.170T>A

exact variant not in gnomAD59 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."