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.Q96Q

c.288G>A

Surrounding Variants

1 paper

NM_001349206.2

p.Q90Q

c.270A>G

1 paper

NM_001349206.2

p.Q90*

c.268C>T

1 paper

NM_001349206.2

p.V89A

c.266T>C

1 paper

NM_001349206.2

p.F88S

c.263T>C

1 paper

NM_001349206.2

p.F87Y

c.260T>A

1 paper

NM_001349206.2

p.E85*

c.253G>T

1 paper

NM_001349206.2

p.G84G

c.252A>G

8 papers

NM_001349206.2

p.G84R

c.250G>A

7 papers

NM_001349206.2

p.G84R

c.250G>C

1 paper

NM_001349206.2

p.M78L

c.232A>C

1 paper

NM_001349206.2

p.M78L

c.232A>T

1 paper

NM_001349206.2

p.G71E

c.212G>A