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

3 papers

NM_001375808.2

p.V140I

c.418G>A

Surrounding Variants

1 paper

NM_001375808.2

p.V140V

c.420C>G

1 paper

NM_001375808.2

p.S138L

c.413C>T

1 paper

NM_001375808.2

p.T143A

c.427A>G

1 paper

NM_001375808.2

p.V140_E142delFs

c.420_426del7

2 papers

NM_001375808.2

p.S135L

c.404C>T

1 paper

NM_001375808.2

p.S135*

c.404C>G

1 paper

NM_001375808.2

p.S135*

c.404C>A

1 paper

NM_001375808.2

p.Q133R

c.398A>G

1 paper

NM_001375808.2

p.P149L

c.446C>T

1 paper

NM_001375808.2

p.T130A

c.388A>G

1 paper

NM_001375808.2

p.E129Q

c.385G>C

1 paper

NM_001375808.2

p.G127V

c.380G>T