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

1 paper

NM_001375808.2

p.G428S

c.1282G>A

Surrounding Variants

1 paper

NM_001375808.2

p.G428G

c.1284T>C

3 papers

NM_001375808.2

p.L438fs

c.1312_1313fs

4 papers

NM_001375808.2

p.S439fs

c.1315_1316fs

8 papers

NM_001375808.2

p.L438delFs

c.1312_1313delAG

1 paper

NM_001375808.2

p.S446S

c.1338C>A

1 paper

NM_001375808.2

p.A450T

c.1348G>A

1 paper

NM_001375808.2

p.L459L

c.1377C>T

2 papers

NM_001375808.2

p.V469L

c.1405G>C

1 paper

NM_001375808.2

p.E486delFs

c.1456delC

2 papers

NM_001375808.2

p.E486Splc

c.1456+4C>G

1 paper

NM_001375808.2

p.E486fs

c.1456_1457fs

2 papers

NM_001375808.2

p.H496L

c.1487A>T