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.T490T

c.1470C>T

Surrounding Variants

1 paper

NM_001349206.2

p.D492G

c.1475A>G

1 paper

NM_145693.4

p.L461delFs

c.1381delC

1 paper

NM_001349206.2

p.G482S

c.1444G>A

1 paper

NM_001349206.2

p.I502V

c.1504A>G

1 paper

NM_001349206.2

p.L504L

c.1512C>G

1 paper

NM_001349206.2

p.Q476*

c.1426C>T

1 paper

NM_001349206.2

p.G506R

c.1516G>A

1 paper

NM_001349206.2

p.G507S

c.1519G>A

2 papers

NM_001349206.2

p.G507G

c.1521C>T

1 paper

NM_001349206.2

p.Q473*

c.1417C>T

2 papers

NM_001261428.3

p.E562*

c.1684G>T

NM_145693.4

p.E477*

c.1429G>T

1 paper

NM_001349206.2

p.T515M

c.1544C>T