Varaico: Literature-Extracted Genetic Variants

CERS5

37 papers

RefSeq Summary

This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is invo...

Pfam Domains

Homeodomainaa 83–135UCSCHomeodomain

TRAM_LAG1_CLN8aa 140–333UCSCTLC domain

Gene Aliases

HGNC Name

ceramide synthase 5

HGNC Previous Symbol

LASS5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_147190.5

p.A36G

c.107C>G

Surrounding Variants

1 paper

NM_147190.5

p.E33A

c.98A>C

1 paper

NM_147190.5

p.Y41C

c.122A>G

1 paper

NM_147190.5

p.W29*

c.87G>A

2 papers

NM_147190.5

p.V27G

c.80T>G

1 paper

NM_147190.5

p.V27M

c.79G>A

1 paper

NM_147190.5

p.S49T

c.145T>A

2 papers

NM_147190.5

p.R20C

c.58C>T

1 paper

NM_147190.5

p.L53L

c.157C>T

1 paper

NM_147190.5

p.A55delFs

c.164_165delCG

1 paper

NM_147190.5

p.W15C

c.45G>T

1 paper

NM_147190.5

p.W15C

c.45G>C

1 paper

NM_147190.5

p.M1ins3

c.1_2ins9