Varaico: Literature-Extracted Genetic Variants

LIPE

230 papers

RefSeq Summary

The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it c...

Pfam Domains

HSL_Naa 307–615UCSCHormone-sensitive lipase (HSL) N-terminus

Abhydrolase_3aa 647–806UCSCalpha/beta hydrolase fold

Abhydrolase_3aa 937–1028UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

lipase E, hormone sensitive type

HGNC Alias Symbol

HSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005357.4

p.P146Q

c.437C>A

Surrounding Variants

1 paper

NM_005357.4

p.P143P

c.429A>T

1 paper

NM_005357.4

p.A149V

c.446C>T

1 paper

NM_005357.4

p.A153D

c.458C>A

1 paper

NM_005357.4

p.E154D

c.462A>T

1 paper

NM_005357.4

p.E154D

c.462A>C

1 paper

NM_005357.4

p.R134delFs

c.400delT

2 papers

NM_005357.4

p.L131W

c.392T>G

2 papers

NM_005357.4

p.A161V

c.482C>T

1 paper

NM_005357.4

p.S155_A161delFs

c.463_482del20

1 paper

NM_005357.4

p.R167R

c.501G>A

1 paper

NM_005357.4

p.S170A

c.508T>G

1 paper

NM_005357.4

p.P172S

c.514C>T