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.Q49insFs

c.146_147ins4

Surrounding Variants

2 papers

NM_005357.4

p.T47T

c.141C>T

1 paper

NM_005357.4

p.P51T

c.151C>A

1 paper

NM_005357.4

p.T47N

c.140C>A

1 paper

NM_005357.4

p.T47S

c.139A>T

1 paper

NM_005357.4

p.R56K

c.167G>A

1 paper

NM_005357.4

p.P57P

c.171C>T

1 paper

NM_005357.4

p.P57delFs

c.171delG

1 paper

NM_005357.4

p.E38G

c.113A>G

1 paper

NM_005357.4

p.E38*

c.112G>T

1 paper

NM_005357.4

p.Q61L

c.182A>T

1 paper

NM_005357.4

p.A65A

c.195A>T

2 papers

NM_005357.4

p.T32S

c.94A>T