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

1–12 of 205 variants

6 papers

NM_005357.4

p.R611C

c.1831C>T

6 papers

NM_005357.4

p.V1068_G1074delFs

c.3203_3221del19

4 papers

NM_005357.4

p.V1068fs

c.3202_3203fs

3 papers

NM_005357.4

p.A94T

c.280G>A

3 papers

NM_005357.4

p.A295Splc

c.883+1G>A

3 papers

NM_005357.4

p.A507fs

c.1519_1520fs

3 papers

NM_005357.4

p.L767_P773delFs

c.2300_2318del19

3 papers

NM_005357.4

p.L959F

c.2875C>T

3 papers

NM_005357.4

p.V1014M

c.3040G>A

3 papers

NM_005357.4

p.E1035*

c.3103G>T

2 papers

NM_005357.4

p.T32S

c.94A>T

2 papers

NM_005357.4

p.T47T

c.141C>T