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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EMP2

EMP2

50 papers

RefSeq Summary

This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signal...

Pfam Domains

PMP22_Claudinaa 1–160UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

epithelial membrane protein 2

HGNC Alias Symbol

XMP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 36 variants

5 papers

chr16:10547599 A>G

NM_001424.6

p.F7L

c.19T>C

PMP22_Claudin

exact variant not in gnomAD11 overlapping SVs

5 papers

chr16:10547597 G>C

NM_001424.6

p.F7L

c.21C>G

PMP22_Claudin

exact variant not in gnomAD11 overlapping SVs

5 papers

chr16:10547597 G>T

NM_001424.6

p.F7L

c.21C>A

PMP22_Claudin

exact variant not in gnomAD11 overlapping SVs

4 papers

chr16:10547590 C>T

NM_001424.6

p.A10T

c.28G>A

PMP22_Claudin

Exome: 0.0% (AC=118, hom=0)Genome: 0.0% (AC=12, hom=0)11 overlapping SVs

3 papers

chr16:10538060 G>A

NM_001424.6

p.Q62*

c.184C>T

PMP22_Claudin

Exome: 0.0% (AC=2, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr16:10547607 A>G

NM_001424.6

p.L4P

c.11T>C

PMP22_Claudin

exact variant not in gnomAD11 overlapping SVs

2 papers

chr16:10547539 C>G

NM_001424.6

p.N26_A27Splc

c.78+1G>C

PMP22_Claudin

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=11, hom=0)11 overlapping SVs

1 paper

chr16:10547612 C>A

NM_001424.6

p.L2F

c.6G>T

PMP22_Claudin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:10547607 A>T

NM_001424.6

p.L4H

c.11T>A

PMP22_Claudin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:10547580 A>C

NM_001424.6

p.I13S

c.38T>G

PMP22_Claudin

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr16:10547557 T>C

NM_001424.6

p.I21V

c.61A>G

PMP22_Claudin

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

1 paper

chr16:10543611 G>A

NM_001424.6

p.T43I

c.128C>T

PMP22_Claudin

Exome: 0.1% (AC=1168, hom=2)Genome: 0.0% (AC=37, hom=0)9 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."