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

1–12 of 214 variants

8 papers

NM_001349206.2

p.G84R

c.250G>A

7 papers

NM_001349206.2

p.R61*

c.181C>T

7 papers

NM_001349206.2

p.G84R

c.250G>C

4 papers

NM_001349206.2

p.Y19*

c.57C>A

4 papers

NM_001349206.2

p.Y19*

c.57C>G

4 papers

NM_001349206.2

p.E215*

c.643G>T

4 papers

NM_145693.4

p.R388*

c.1162C>T

3 papers

NM_001349206.2

p.V64_V65Splc

c.192+2T>C

3 papers

NM_001349206.2

p.D126_R127insFs

c.377_380dup4

3 papers

NM_001349206.2

p.R801*

c.2401A>T

2 papers

NM_001349206.2

p.G9delFs

c.27delC

2 papers

NM_001349206.2

p.V64M

c.190G>A