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.R1037R

c.3111C>T

Surrounding Variants

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

3 papers

NM_005357.4

p.E1035*

c.3103G>T

1 paper

NM_005357.4

p.C1043G

c.3127T>G

1 paper

NM_005357.4

p.H1024Y

c.3070C>T

1 paper

NM_005357.4

p.A1055A

c.3165C>G

1 paper

NM_005357.4

p.G1058R

c.3172G>C

1 paper

NM_005357.4

p.G1058R

c.3172G>A

1 paper

NM_005357.4

p.R1017S

c.3049C>A

3 papers

NM_005357.4

p.V1014M

c.3040G>A

4 papers

NM_005357.4

p.V1068fs

c.3202_3203fs