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.R760G

c.2278C>G

Surrounding Variants

2 papers

NM_001375808.2

p.I757I

c.2271C>T

1 paper

NM_001375808.2

p.G755A

c.2264G>C

1 paper

NM_001375808.2

p.G755R

c.2263G>C

1 paper

NM_001375808.2

p.S768R

c.2302A>C

1 paper

NM_001375808.2

p.S768R

c.2304C>G

1 paper

NM_001375808.2

p.S768R

c.2304C>A

1 paper

NM_001375808.2

p.L748P

c.2243T>C

6 papers

NM_001375808.2

p.Y747_L748Fs

c.2241_2243delinsGGFs

6 papers

NM_001375808.2

p.Y747*

c.2241C>G

6 papers

NM_001375808.2

p.Y747*

c.2241C>A

7 papers

NM_001375808.2

p.R776fs

c.2326_2327fs

10 papers

NM_001375808.2

p.R776Splc

c.2327+1G>C