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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAL

Variant:p.P23L

MAL

58 papers

RefSeq Summary

The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells a...

Pfam Domains

MARVELaa 18–145UCSCMembrane-associating domain

Gene Aliases

HGNC Name

mal, T cell differentiation protein

HGNC Alias Symbols

MVP17; VIP17

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:95025860 C>T

NM_002371.4

p.P23L

c.68C>T

MARVEL

Exome: 0.0% (AC=2, hom=0)Genome: n/a143 overlapping SVs

Surrounding Variants

2 papers

chr2:95025851 C>T

NM_002371.4

p.T20I

c.59C>T

MARVEL

Exome: 0.8% (AC=11666, hom=81)Genome: 0.7% (AC=1064, hom=16)143 overlapping SVs

1 paper

chr2:95025850 A>AC

NM_002371.4

p.T20insFs

c.59dupC

MARVEL

exact variant not in gnomAD143 overlapping SVs

1 paper

chr2:95025835 G>C

NM_002371.4

p.G15R

c.43G>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a143 overlapping SVs

1 paper

chr2:95025830 C>T

NM_002371.4

p.P13L

c.38C>T

exact variant not in gnomAD143 overlapping SVs

1 paper

chr2:95025826 C>G

NM_002371.4

p.L12V

c.34C>G

exact variant not in gnomAD143 overlapping SVs

1 paper

chr2:95025803 C>T

NM_002371.4

p.A4V

c.11C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a143 overlapping SVs

1 paper

chr2:95025798 C>A

NM_002371.4

p.A2A

c.6C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a143 overlapping SVs

2 papers

chr2:95025793 A>G

NM_002371.4

p.M1V

c.1A>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)143 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."