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

1 paper

NM_001349206.2

p.Q750H

c.2250G>C

Surrounding Variants

1 paper

NM_001349206.2

p.N751_G752delFs

c.2253_2254delTG

1 paper

NM_145693.4

p.Y721insFs

c.2162dupA

2 papers

NM_145693.4

p.R725H

c.2174G>A

1 paper

NM_145693.4

p.R734Q

c.2201G>A

1 paper

NM_145693.4

p.G750G

c.2250G>C

1 paper

NM_145693.4

p.P751_L752delFs

c.2253_2254delCC

1 paper

NM_001349206.2

p.P787R

c.2360C>G

1 paper

NM_001349206.2

p.L789L

c.2365C>T

1 paper

NM_001261428.3

p.L839R

c.2516T>G

2 papers

NM_001349206.2

p.H800Y

c.2398C>T

3 papers

NM_001349206.2

p.R801*

c.2401A>T

1 paper

NM_001349206.2

p.R801delins

c.2401_2402delinsAA