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

1–12 of 40 variants

2 papers

NM_019893.4

p.S50fs

c.148_149fs

2 papers

NM_019893.4

p.Q83*

c.247C>T

2 papers

NM_019893.4

p.S164S

c.492A>C

1 paper

NM_019893.4

p.M1I

c.3G>T

1 paper

NM_019893.4

p.M1I

c.3G>C

1 paper

NM_019893.4

p.M1I

c.3G>A

1 paper

NM_019893.4

p.R4R

c.12C>T

1 paper

NM_019893.4

p.T5I

c.14C>T

1 paper

NM_019893.4

p.E10G

c.29A>G

1 paper

NM_019893.4

p.L13L

c.39G>A

1 paper

NM_019893.4

p.L16F

c.46C>T

1 paper

NM_019893.4

p.T24I

c.71C>T