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

3 papers

NM_001349206.2

p.D126_R127insFs

c.377_380dup4

Surrounding Variants

1 paper

NM_001349206.2

p.R129K

c.386G>A

1 paper

NM_001349206.2

p.K121R

c.362A>G

1 paper

NM_001349206.2

p.K121Q

c.361A>C

2 papers

NM_001349206.2

p.D132_A137delFs

c.394_409del16

1 paper

NM_001349206.2

p.Q119_L120insFs

c.357_358insCT

1 paper

NM_001349206.2

p.D132fs

c.394_395fs

2 papers

NM_001349206.2

p.S114A

c.340T>G

2 papers

NM_001349206.2

p.A113V

c.338C>T

1 paper

NM_001349206.2

p.A113insFs

c.337dupG

1 paper

NM_001349206.2

p.G112R

c.334G>A

1 paper

NM_001349206.2

p.G112R

c.334G>C

2 papers

NM_001349206.2

p.S110A

c.328T>G