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.S1000L

c.2999C>T

Surrounding Variants

1 paper

NM_005357.4

p.V1001L

c.3001G>C

1 paper

NM_005357.4

p.D998G

c.2993A>G

1 paper

NM_005357.4

p.L1003V

c.3007C>G

3 papers

NM_005357.4

p.V1014M

c.3040G>A

1 paper

NM_005357.4

p.R1017S

c.3049C>A

1 paper

NM_005357.4

p.H1024Y

c.3070C>T

3 papers

NM_005357.4

p.E1035*

c.3103G>T

1 paper

NM_005357.4

p.R1037R

c.3111C>T

1 paper

NM_005357.4

p.A1039S

c.3115G>T

1 paper

NM_005357.4

p.A1039T

c.3115G>A

1 paper

NM_005357.4

p.A1040S

c.3118G>T

1 paper

NM_005357.4

p.C1043G

c.3127T>G