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

Selected Variant

1 paper

NM_032464.3

p.P224L

c.671C>T

Surrounding Variants

1 paper

NM_032464.3

p.G219D

c.656G>A

1 paper

NM_032464.3

p.W202R

c.604T>C

1 paper

NM_032464.3

p.L178insFs

c.533_534insT

1 paper

NM_032464.3

p.L178F

c.532C>T

1 paper

NM_032464.3

p.L168delFs

c.504delG

1 paper

NM_032464.3

p.G150Splc

c.448+1G>A

4 papers

NM_032464.3

p.Y136F

c.407A>T

1 paper

NM_032464.3

p.N134S

c.401A>G

1 paper

NM_032464.3

p.E129K

c.385G>A

1 paper

NM_032464.3

p.F124L

c.370T>C

1 paper

NM_032464.3

p.R123Q

c.368G>A

1 paper

NM_032464.3

p.A115A

c.345C>A