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.I36_R37Fs

c.108_109delinsGFs

Surrounding Variants

1 paper

NM_001261428.3

p.R86C

c.256C>T

1 paper

NM_001349206.2

p.R37Fs

c.110_111delinsGFs

1 paper

NM_001349206.2

p.Q38*

c.112C>T

1 paper

NM_001261428.3

p.V84I

c.250G>A

1 paper

NM_001349206.2

p.L27V

c.79C>G

1 paper

NM_001349206.2

p.T26R

c.77C>G

1 paper

NM_001349206.2

p.P47S

c.139C>T

1 paper

NM_001349206.2

p.A25T

c.73G>A

1 paper

NM_001349206.2

p.V50I

c.148G>A

1 paper

NM_001349206.2

p.R51C

c.151C>T

1 paper

NM_001349206.2

p.L22M

c.64C>A

1 paper

NM_001349206.2

p.G21R

c.61G>A