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.P600A

c.1798C>G

Surrounding Variants

1 paper

NM_005357.4

p.P598T

c.1792C>A

1 paper

NM_005357.4

p.V603G

c.1808T>G

6 papers

NM_005357.4

p.R611C

c.1831C>T

1 paper

NM_005357.4

p.T586K

c.1757C>A

1 paper

NM_005357.4

p.P583L

c.1748C>T

2 papers

NM_005357.4

p.E573K

c.1717G>A

1 paper

NM_005357.4

p.A560T

c.1678G>A

1 paper

NM_005357.4

p.S552_S553Splc

c.1657-1G>A

2 papers

NM_005357.4

p.G627S

c.1879G>A

1 paper

NM_005357.4

p.S630N

c.1889G>A

2 papers

NM_005357.4

p.L631fs

c.1891_1892fs

2 papers

NM_005357.4

p.S630_L631delFs

c.1890_1891delGG