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.L649P

c.1946T>C

Surrounding Variants

2 papers

NM_001375808.2

p.G654D

c.1961G>A

1 paper

NM_001375808.2

p.N656D

c.1966A>G

1 paper

NM_001375808.2

p.T663T

c.1989A>G

1 paper

NM_001375808.2

p.R671L

c.2012G>T

1 paper

NM_001375808.2

p.W681fs

c.2041_2042fs

1 paper

NM_001375808.2

p.W681delFs

c.2041delA

1 paper

NM_001375808.2

p.K696K

c.2088G>A

1 paper

NM_001375808.2

p.I646M

c.1938C>G

1 paper

NM_001375808.2

p.Q702*

c.2104C>T

1 paper

NM_001375808.2

p.I703ins1

c.2107_2108insAGG

1 paper

NM_001375808.2

p.P705T

c.2113C>A

1 paper

NM_001375808.2

p.D710H

c.2128G>C