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

7 papers

NM_147190.5

p.C75R

c.223T>C

Surrounding Variants

1 paper

NM_147190.5

p.C75Y

c.224G>A

1 paper

NM_147190.5

p.L74_C75delFs

c.222_223delAG

1 paper

NM_147190.5

p.K94fs

c.280_281fs

1 paper

NM_147190.5

p.L111L

c.333G>C

1 paper

NM_147190.5

p.L115L

c.345G>A

1 paper

NM_147190.5

p.K134R

c.401A>G

1 paper

NM_147190.5

p.K140R

c.419A>G

1 paper

NM_147190.5

p.S164L

c.491C>T

1 paper

NM_147190.5

p.S164_S165Splc

c.493-33G>T

1 paper

NM_147190.5

p.S164_S165Splc

c.493-26G>A

1 paper

NM_147190.5

p.S165L

c.494C>T

1 paper

NM_147190.5

p.W169C

c.507G>T