Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASAH2B

ASAH2B

10q11.23 (UCSC)OMIM GTEx

4 papers

Pfam Domains

Ceramidse_alk_Caa 16–162UCSCNeutral/alkaline non-lysosomal ceramidase, C-terminal

Gene Aliases

HGNC Name

N-acylsphingosine amidohydrolase 2B

HGNC Previous Symbol

ASAH2C

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr10:50745132 T>C

NM_001321958.2

p.M1T

c.2T>C

Exome: 7.5% (AC=30486, hom=14373)Genome: 44.7% (AC=20220, hom=6475)29 overlapping SVs

chr10:50745164 C>G

NM_001321958.2

p.P12A

c.34C>G

exact variant not in gnomAD29 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."