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.K536T

c.1607A>C

Surrounding Variants

1 paper

NM_001375808.2

p.Q535*

c.1603C>T

2 papers

NM_001375808.2

p.K540_A541Splc

c.1620+5G>C

1 paper

NM_001375808.2

p.A524V

c.1571C>T

4 papers

NM_001375808.2

p.R517H

c.1550G>A

3 papers

NM_001375808.2

p.R517H

c.1550G>A

1 paper

NM_001375808.2

p.I505T

c.1514T>C

15 papers

NM_001375808.2

p.L504F

c.1510C>T

1 paper

NM_001375808.2

p.E497*

c.1489G>T

2 papers

NM_001375808.2

p.E497K

c.1489G>A

2 papers

NM_001375808.2

p.H496L

c.1487A>T

1 paper

NM_001375808.2

p.E486fs

c.1456_1457fs

2 papers

NM_001375808.2

p.R562*

c.1684C>T