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.V57delFs

c.171delC

Surrounding Variants

1 paper

NM_001349206.2

p.V57A

c.170T>C

1 paper

NM_001349206.2

p.V57I

c.169G>A

1 paper

NM_001349206.2

p.L58L

c.172C>T

1 paper

NM_001349206.2

p.G56E

c.167G>A

1 paper

NM_001349206.2

p.L58L

c.174G>C

1 paper

NM_001349206.2

p.R59H

c.176G>A

8 papers

NM_001261428.3

p.R110*

c.328C>T

NM_001349206.2

p.R61*

c.181C>T

1 paper

NM_001349206.2

p.R51C

c.151C>T

2 papers

NM_001349206.2

p.V64M

c.190G>A

1 paper

NM_001349206.2

p.V64A

c.191T>C

1 paper

NM_001349206.2

p.V50I

c.148G>A

3 papers

NM_001349206.2

p.V64_V65Splc

c.192+2T>C