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.S164_S165Splc

c.493-26G>A

Surrounding Variants

1 paper

NM_147190.5

p.S164_S165Splc

c.493-33G>T

1 paper

NM_147190.5

p.S165L

c.494C>T

1 paper

NM_147190.5

p.W169C

c.507G>T

1 paper

NM_147190.5

p.W169C

c.507G>C

1 paper

NM_147190.5

p.D213N

c.637G>A

1 paper

NM_147190.5

p.H220D

c.658C>G

1 paper

NM_147190.5

p.L222_V223del1

c.666_668delACC

1 paper

NM_147190.5

p.L222_V223del2

c.664_668del6

1 paper

NM_147190.5

p.L227I

c.679C>A

1 paper

NM_147190.5

p.S231A

c.691T>G

1 paper

NM_147190.5

p.M236K

c.707T>A

1 paper

NM_147190.5

p.D251D

c.753C>T