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.R56W

c.166C>T

Surrounding Variants

2 papers

NM_032464.3

p.G54V

c.161G>T

1 paper

NM_032464.3

p.T53M

c.158C>T

1 paper

NM_032464.3

p.G54delFs

c.161delG

1 paper

NM_032464.3

p.Q49H

c.147A>T

1 paper

NM_032464.3

p.L60Splc

c.178+52C>G

1 paper

NM_032464.3

p.V61D

c.182T>A

1 paper

NM_032464.3

p.V61V

c.183C>T

1 paper

NM_032464.3

p.W65*

c.195G>A

1 paper

NM_032464.3

p.P68_M72delFs

c.204_214del11

2 papers

NM_032464.3

p.R94S

c.282G>C

1 paper

NM_032464.3

p.R94S

c.282G>T

1 paper

NM_032464.3

p.Q96*

c.286C>T