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.R882S

c.2646G>C

Surrounding Variants

1 paper

NM_005357.4

p.R882S

c.2646G>T

1 paper

NM_005357.4

p.T868T

c.2604G>A

1 paper

NM_005357.4

p.S897L

c.2690C>T

1 paper

NM_005357.4

p.S902fs

c.2704_2705fs

2 papers

NM_005357.4

p.S902delFs

c.2705delC

1 paper

NM_005357.4

p.E921D

c.2763G>T

1 paper

NM_005357.4

p.E921D

c.2763G>C

1 paper

NM_005357.4

p.P930L

c.2789C>T

1 paper

NM_005357.4

p.D932N

c.2794G>A

1 paper

NM_005357.4

p.R938S

c.2812C>A

1 paper

NM_005357.4

p.R938H

c.2813G>A

2 papers

NM_005357.4

p.E943fs

c.2827_2828fs