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_145693.4

p.R388*

c.1162C>T

Surrounding Variants

1 paper

NM_001349206.2

p.D437G

c.1310A>G

1 paper

NM_001349206.2

p.A446T

c.1336G>A

1 paper

NM_001349206.2

p.Y449D

c.1345T>G

1 paper

NM_001349206.2

p.P451L

c.1352C>T

1 paper

NM_001349206.2

p.K452delFs

c.1356delA

1 paper

NM_145693.4

p.P420delFs

c.1259delC

2 papers

NM_001349206.2

p.P456S

c.1366C>T

1 paper

NM_001349206.2

p.S457F

c.1370C>T

1 paper

NM_001349206.2

p.Q473*

c.1417C>T

1 paper

NM_001349206.2

p.Q476*

c.1426C>T

1 paper

NM_001349206.2

p.G482S

c.1444G>A

1 paper

NM_001349206.2

p.T490T

c.1470C>T