Varaico: Literature-Extracted Genetic Variants

LTA4H

67 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proi...

Pfam Domains

Peptidase_M1_Naa 18–202UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 233–448UCSCPeptidase family M1 domain

Leuk-A4-hydro_Caa 495–608UCSCLeukotriene A4 hydrolase, C-terminal

Gene Aliases

HGNC Name

leukotriene A4 hydrolase

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

3 papers

NM_000895.3

p.F107S

c.320T>C

2 papers

NM_000895.3

p.A143A

c.429A>G

2 papers

NM_000895.3

p.L366V

c.1096C>G

2 papers

NM_000895.3

p.P598P

c.1794C>T

1 paper

NM_000895.3

p.I4R

c.11T>G

1 paper

NM_000895.3

p.I4T

c.11T>C

1 paper

NM_000895.3

p.I4K

c.11T>A

1 paper

NM_000895.3

p.A11S

c.31G>T

1 paper

NM_000895.3

p.H23Y

c.67C>T

1 paper

NM_000895.3

p.R33L

c.98G>T

1 paper

NM_000895.3

p.L35P

c.104T>C

1 paper

NM_000895.3

p.V43A

c.128T>C