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

10 papers

NM_001375808.2

p.R736H

c.2207G>A

Surrounding Variants

2 papers

NM_001375808.2

p.R736C

c.2206C>T

1 paper

NM_001375808.2

p.A737A

c.2211C>T

1 paper

NM_001375808.2

p.S734S

c.2202G>A

27 papers

NM_001375808.2

p.S734L

c.2201C>T

2 papers

NM_001375808.2

p.Y732*

c.2196C>G

2 papers

NM_001375808.2

p.Y732*

c.2196C>A

1 paper

NM_001375808.2

p.D742N

c.2224G>A

1 paper

NM_001375808.2

p.A741delFs

c.2223delG

1 paper

NM_001375808.2

p.Y728delFs

c.2184delG

6 papers

NM_001375808.2

p.Y747*

c.2241C>G

6 papers

NM_001375808.2

p.Y747*

c.2241C>A

1 paper

NM_001375808.2

p.L748P

c.2243T>C