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.S113F

c.338C>T

Surrounding Variants

1 paper

NM_005357.4

p.Q114R

c.341A>G

1 paper

NM_005357.4

p.G116G

c.348A>G

1 paper

NM_005357.4

p.P117P

c.351T>C

1 paper

NM_005357.4

p.G118E

c.353G>A

1 paper

NM_005357.4

p.R103K

c.308G>A

2 papers

NM_005357.4

p.Y100H

c.298T>C

2 papers

NM_005357.4

p.L131W

c.392T>G

3 papers

NM_005357.4

p.A94T

c.280G>A

1 paper

NM_005357.4

p.R134delFs

c.400delT

1 paper

NM_005357.4

p.E86*

c.256G>T

1 paper

NM_005357.4

p.S83*

c.248C>A

1 paper

NM_005357.4

p.P143P

c.429A>T