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.G1058R

c.3172G>A

Surrounding Variants

1 paper

NM_005357.4

p.G1058R

c.3172G>C

1 paper

NM_005357.4

p.A1055A

c.3165C>G

4 papers

NM_005357.4

p.V1068fs

c.3202_3203fs

2 papers

NM_005357.4

p.V1068fs

c.3202_3203fs

1 paper

NM_005357.4

p.C1072G

c.3214T>G

2 papers

NM_005357.4

p.C1072W

c.3216C>G

1 paper

NM_005357.4

p.C1043G

c.3127T>G

1 paper

NM_005357.4

p.G1074fs

c.3220_3221fs

6 papers

NM_005357.4

p.V1068_G1074delFs

c.3203_3221del19

1 paper

NM_005357.4

p.G1074insFs

c.3222dupG

2 papers

NM_005357.4

p.G1074delFs

c.3222delC

1 paper

NM_005357.4

p.R1075fs

c.3223_3224fs