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

2 papers

NM_005357.4

p.S630_L631delFs

c.1890_1891delGG

Surrounding Variants

2 papers

NM_005357.4

p.L631fs

c.1891_1892fs

1 paper

NM_005357.4

p.S630N

c.1889G>A

2 papers

NM_005357.4

p.G627S

c.1879G>A

2 papers

NM_005357.4

p.R636H

c.1907G>A

1 paper

NM_005357.4

p.S643L

c.1928C>T

1 paper

NM_005357.4

p.F650V

c.1948T>G

1 paper

NM_005357.4

p.F650C

c.1949T>G

1 paper

NM_005357.4

p.G653A

c.1958G>C

1 paper

NM_005357.4

p.T659I

c.1976C>T

1 paper

NM_005357.4

p.S660A

c.1978T>G

1 paper

NM_005357.4

p.L667L

c.2001C>A

1 paper

NM_005357.4

p.D682N

c.2044G>A