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.E521K

c.1561G>A

Surrounding Variants

2 papers

NM_005357.4

p.D519N

c.1555G>A

1 paper

NM_005357.4

p.G514S

c.1540G>A

1 paper

NM_005357.4

p.S508fs

c.1522_1523fs

3 papers

NM_005357.4

p.A507fs

c.1519_1520fs

1 paper

NM_005357.4

p.E547K

c.1639G>A

1 paper

NM_005357.4

p.S552A

c.1654T>G

1 paper

NM_005357.4

p.S552L

c.1655C>T

1 paper

NM_005357.4

p.E500*

c.1498G>T

1 paper

NM_005357.4

p.N499H

c.1495A>C

1 paper

NM_005357.4

p.L482L

c.1444C>T

1 paper

NM_005357.4

p.R479Q

c.1436G>A

1 paper

NM_005357.4

p.S552_S553Splc

c.1657-1G>A