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.S198I

c.593G>T

Surrounding Variants

1 paper

NM_001349206.2

p.D189G

c.566A>G

1 paper

NM_001349206.2

p.S187C

c.559A>T

2 papers

NM_001349206.2

p.I184I

c.552C>T

NM_001261428.3

p.I233I

c.699C>T

1 paper

NM_001349206.2

p.E177K

c.529G>A

1 paper

NM_001349206.2

p.S176Y

c.527C>A

1 paper

NM_001349206.2

p.K168Q

c.502A>C

1 paper

NM_001349206.2

p.D170delFs

c.508_509delGA

1 paper

NM_001349206.2

p.Q163L

c.488A>T

1 paper

NM_001349206.2

p.V152L

c.454G>C

1 paper

NM_001349206.2

p.V152L

c.454G>T

1 paper

NM_001349206.2

p.T145M

c.434C>T

1 paper

NM_001349206.2

p.D132fs

c.394_395fs