Varaico: Literature-Extracted Genetic Variants

ASAH2

42 papers

RefSeq Summary

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mit...

Pfam Domains

Ceramidase_alkaa 102–608UCSCNeutral/alkaline non-lysosomal ceramidase, N-terminal

Ceramidse_alk_Caa 610–777UCSCNeutral/alkaline non-lysosomal ceramidase, C-terminal

Gene Aliases

HGNC Name

N-acylsphingosine amidohydrolase 2

HGNC Previous Name

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019893.4

p.Y102*

c.306C>A

Surrounding Variants

1 paper

NM_019893.4

p.Y102*

c.306C>G

1 paper

NM_019893.4

p.S100N

c.299G>A

1 paper

NM_019893.4

p.G113R

c.337G>C

1 paper

NM_019893.4

p.G113R

c.337G>A

2 papers

NM_019893.4

p.Q83*

c.247C>T

1 paper

NM_019893.4

p.H72fs

c.214_215fs

1 paper

NM_019893.4

p.Q71fs

c.211_212fs

1 paper

NM_019893.4

p.Q71Fs

c.211delinsCAFs

1 paper

NM_019893.4

p.Q71insFs

c.211dupC

1 paper

NM_019893.4

p.A69A

c.207C>T

1 paper

NM_019893.4

p.Q59K

c.175C>A

1 paper

NM_019893.4

p.P55H

c.164C>A