Varaico: Literature-Extracted Genetic Variants

LYPLA1

30 papers

RefSeq Summary

This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be inv...

Pfam Domains

Abhydrolase_2aa 1–162UCSCPhospholipase/Carboxylesterase

Abhydrolase_2aa 8–125UCSCPhospholipase/Carboxylesterase

Abhydrolase_2aa 123–192UCSCPhospholipase/Carboxylesterase

Gene Aliases

HGNC Name

lysophospholipase 1

HGNC Alias Symbols

LPL1; APT-1; APT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006330.4

p.*231R

c.691T>C

Surrounding Variants

2 papers

NM_006330.4

p.K224R

c.671A>G

1 paper

NM_006330.4

p.K224Q

c.670A>C

1 paper

NM_006330.4

p.N194D

c.580A>G

2 papers

NM_006330.4

p.L176M

c.526T>A

1 paper

NM_006330.4

p.D174A

c.521A>C

1 paper

NM_006330.4

p.N161_R162del0

c.481_486del6

1 paper

NM_006330.4

p.S151A

c.451T>G

1 paper

NM_006330.4

p.T131fs

c.391_392fs

3 papers

NM_006330.4

p.S119A

c.355T>G

1 paper

NM_006330.4

p.R112G

c.334A>G