Varaico: Literature-Extracted Genetic Variants

MAL2

30 papers

RefSeq Summary

This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal stru...

Pfam Domains

MARVELaa 31–169UCSCMembrane-associating domain

Gene Aliases

HGNC Name

mal, T cell differentiation protein 2

HGNC Previous Names

mal, T-cell differentiation protein 2 (gene/pseudogene); mal, T cell differentiation protein 2 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052886.3

p.A75T

c.223G>A

Surrounding Variants

1 paper

NM_052886.3

p.S79L

c.236C>T

1 paper

NM_052886.3

p.L81P

c.242T>C

1 paper

NM_052886.3

p.A92T

c.274G>A

1 paper

NM_052886.3

p.W98*

c.293G>A

1 paper

NM_052886.3

p.W98*

c.294G>A