Varaico: Literature-Extracted Genetic Variants

LAT2

72 papers

RefSeq Summary

This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing g...

Pfam Domains

LAT2aa 28–155UCSCLinker for activation of T-cells family member 2

LAT2aa 178–238UCSCLinker for activation of T-cells family member 2

Gene Aliases

HGNC Name

linker for activation of T cells family member 2

HGNC Previous Symbols

WBSCR15; WBSCR5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

4 papers

NM_032464.3

p.Y136F

c.407A>T

2 papers

NM_032464.3

p.M1L

c.1A>C

2 papers

NM_032464.3

p.M1L

c.1A>T

2 papers

NM_032464.3

p.G54V

c.161G>T

2 papers

NM_032464.3

p.R94S

c.282G>C

1 paper

NM_032464.3

p.M1insFs

c.2dupT

1 paper

NM_032464.3

p.M1T

c.2T>C

1 paper

NM_032464.3

p.M1I

c.3G>A

1 paper

NM_032464.3

p.G4G

c.12G>C

1 paper

NM_032464.3

p.T5I

c.14C>T

1 paper

NM_032464.3

p.A12E

c.35C>A

1 paper

NM_032464.3

p.L14insFs

c.42dupG