Varaico: Literature-Extracted Genetic Variants

LPIN2

173 papers

RefSeq Summary

Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystro...

Pfam Domains

Lipin_Naa 1–107UCSClipin, N-terminal conserved region

Lipin_midaa 469–562UCSCLipin/Ned1/Smp2 multi-domain protein middle domain

LNS2aa 637–862UCSCLNS2 (Lipin/Ned1/Smp2)

Gene Aliases

HGNC Name

lipin 2

HGNC Alias Symbol

KIAA0249

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001375808.2

p.A173T

c.517G>A

Surrounding Variants

1 paper

NM_001375808.2

p.Q171K

c.511C>A

2 papers

NM_001375808.2

p.A177T

c.529G>A

1 paper

NM_001375808.2

p.A177G

c.530C>G

1 paper

NM_001375808.2

p.A177A

c.531A>G

2 papers

NM_001375808.2

p.T180fs

c.538_539fs

6 papers

NM_001375808.2

p.T180_C181delFs

c.540_541delAT

9 papers

NM_001375808.2

p.C181*

c.543T>A

1 paper

NM_001375808.2

p.S187F

c.560C>T

1 paper

NM_001375808.2

p.D188N

c.562G>A

1 paper

NM_001375808.2

p.R157Q

c.470G>A

1 paper

NM_001375808.2

p.P149L

c.446C>T

2 papers

NM_001375808.2

p.R197*

c.589C>T