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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MALL

MALL

8 papers

RefSeq Summary

This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- an...

Pfam Domains

MARVELaa 22–149UCSCMembrane-associating domain

Gene Aliases

HGNC Name

mal, T cell differentiation protein like

HGNC Alias Symbol

BENE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr2:110115733 G>GGCT

NM_005434.5

p.V20_A21ins1

c.60_61insAGC

exact variant not in gnomAD155 overlapping SVs

1 paper

chr2:110091737 C>T

NM_005434.5

p.A47T

c.139G>A

MARVEL

Exome: 0.1% (AC=1965, hom=0)Genome: 0.2% (AC=331, hom=0)156 overlapping SVs

1 paper

chr2:110091721 T>C

NM_005434.5

p.Y52C

c.155A>G

MARVEL

Exome: 0.1% (AC=1811, hom=0)Genome: 0.1% (AC=137, hom=0)156 overlapping SVs

1 paper

chr2:110091698 T>TNNNNNNNNN

NM_005434.5

p.M60_Y61insAGC

c.178_182ins9

MARVEL

exact variant not in gnomAD156 overlapping SVs

1 paper

chr2:110087679 T>A

NM_005434.5

p.T98S

c.292A>T

MARVEL

exact variant not in gnomAD155 overlapping SVs

1 paper

chr2:110087678 G>C

NM_005434.5

p.T98S

c.293C>G

MARVEL

exact variant not in gnomAD155 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."