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.N13H

c.37A>C

Surrounding Variants

1 paper

NM_052886.3

p.N13T

c.38A>C

1 paper

NM_052886.3

p.P14R

c.41C>G

3 papers

NM_052886.3

p.V23delFs

c.67delG

1 paper

NM_052886.3

p.V23fs

c.67_68fs

1 paper

NM_052886.3

p.Y35H

c.103T>C

2 papers

NM_052886.3

p.L42P

c.125T>C