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.P113L

c.338C>T

Surrounding Variants

1 paper

NM_032464.3

p.A115A

c.345C>A

1 paper

NM_032464.3

p.R123Q

c.368G>A

1 paper

NM_032464.3

p.F124L

c.370T>C

1 paper

NM_032464.3

p.E129K

c.385G>A

1 paper

NM_032464.3

p.A109A

c.327C>A

1 paper

NM_032464.3

p.A109A

c.327C>T

1 paper

NM_032464.3

p.A109V

c.326C>T

1 paper

NM_032464.3

p.R103K

c.308G>A

1 paper

NM_032464.3

p.G101Splc

c.301+2T>G

1 paper

NM_032464.3

p.Q96*

c.286C>T

2 papers

NM_032464.3

p.R94S

c.282G>C

1 paper

NM_032464.3

p.R94S

c.282G>T