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

5 papers

NM_001375808.2

p.P626S

c.1876C>T

Surrounding Variants

1 paper

NM_001375808.2

p.I622_T624del3

c.1864_1871del9

1 paper

NM_001375808.2

p.P623S

c.1867C>T

1 paper

NM_001375808.2

p.G630S

c.1888G>A

1 paper

NM_001375808.2

p.T633I

c.1898C>T

1 paper

NM_001375808.2

p.E614K

c.1840G>A

1 paper

NM_001375808.2

p.E612K

c.1834G>A

2 papers

NM_001375808.2

p.S605L

c.1814C>T

1 paper

NM_001375808.2

p.I646M

c.1938C>G

7 papers

NM_001375808.2

p.E601K

c.1801G>A

1 paper

NM_001375808.2

p.P599L

c.1796C>T

1 paper

NM_001375808.2

p.L649P

c.1946T>C

2 papers

NM_001375808.2

p.G654D

c.1961G>A