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

1–12 of 200 variants

27 papers

NM_001375808.2

p.S734L

c.2201C>T

15 papers

NM_001375808.2

p.L504F

c.1510C>T

10 papers

NM_001375808.2

p.R736H

c.2207G>A

10 papers

NM_001375808.2

p.R776Splc

c.2327+1G>C

9 papers

NM_001375808.2

p.C181*

c.543T>A

8 papers

NM_001375808.2

p.L438delFs

c.1312_1313delAG

7 papers

NM_001375808.2

p.E601K

c.1801G>A

7 papers

NM_001375808.2

p.R776fs

c.2326_2327fs

6 papers

NM_001375808.2

p.T180_C181delFs

c.540_541delAT

6 papers

NM_001375808.2

p.R564_E565delFs

c.1691_1694del4

6 papers

NM_001375808.2

p.Y747*

c.2241C>G

6 papers

NM_001375808.2

p.Y747*

c.2241C>A