Varaico: Literature-Extracted Genetic Variants

LPIN1

145 papers

RefSeq Summary

This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid...

Pfam Domains

Lipin_Naa 1–107UCSClipin, N-terminal conserved region

Lipin_midaa 464–557UCSCLipin/Ned1/Smp2 multi-domain protein middle domain

LNS2aa 626–851UCSCLNS2 (Lipin/Ned1/Smp2)

Gene Aliases

HGNC Name

lipin 1

HGNC Alias Symbol

KIAA0188

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001349206.2

p.E215*

c.643G>T

Surrounding Variants

1 paper

NM_001349206.2

p.N216S

c.647A>G

1 paper

NM_001349206.2

p.L219L

c.657G>A

1 paper

NM_001349206.2

p.Y223*

c.669C>A

1 paper

NM_001349206.2

p.Y223*

c.669C>G

1 paper

NM_001349206.2

p.A227_Y229Fs

c.680_685delinsGGTAATCFs

1 paper

NM_001349206.2

p.Y229*

c.687C>A

1 paper

NM_001349206.2

p.Y229*

c.687C>G

1 paper

NM_001349206.2

p.N231H

c.691A>C

1 paper

NM_001349206.2

p.S232L

c.695C>T

1 paper

NM_001349206.2

p.P238L

c.713C>T

1 paper

NM_001349206.2

p.T239I

c.716C>T

1 paper

NM_001349206.2

p.S241Splc

c.722+1070C>T