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.Q256*

c.766C>T

Surrounding Variants

1 paper

NM_005357.4

p.A255V

c.764C>T

1 paper

NM_005357.4

p.G261A

c.782G>C

1 paper

NM_005357.4

p.G267R

c.799G>C

1 paper

NM_005357.4

p.E235A

c.704A>C

1 paper

NM_005357.4

p.P279L

c.836C>T

1 paper

NM_005357.4

p.V229F

c.685G>T

1 paper

NM_005357.4

p.S226F

c.677C>T

1 paper

NM_005357.4

p.W222C

c.666G>T

1 paper

NM_005357.4

p.W222C

c.666G>C

3 papers

NM_005357.4

p.A295Splc

c.883+1G>A

1 paper

NM_005357.4

p.G205fs

c.613_614fs

2 papers

NM_005357.4

p.A194V

c.581C>T