Varaico: Literature-Extracted Genetic Variants

PNPLA7

80 papers

RefSeq Summary

Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[s...

Pfam Domains

cNMP_bindingaa 163–258UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 477–566UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 594–682UCSCCyclic nucleotide-binding domain

NTE_Ploopaa 728–923UCSCNeuropathy Target Esterase family P-loop like domain

Gene Aliases

HGNC Name

patatin like domain 7, lysophospholipase

HGNC Previous Symbol

C9orf111

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098537.3

p.T1161M

c.3482C>T

Surrounding Variants

1 paper

NM_001098537.3

p.T1161T

c.3483G>A

3 papers

NM_001098537.3

p.G1148E

c.3443G>A

1 paper

NM_001098537.3

p.Y1142F

c.3425A>T

1 paper

NM_001098537.3

p.E1136E

c.3408G>A

1 paper

NM_001098537.3

p.S1133R

c.3399C>G

1 paper

NM_001098537.3

p.S1133R

c.3399C>A

1 paper

NM_001098537.3

p.S1133R

c.3397A>C

1 paper

NM_001098537.3

p.A1118V

c.3353C>T

1 paper

NM_001098537.3

p.Y1177Y

c.3531C>T

1 paper

NM_001098537.3

p.I1200fs

c.3598_3599fs

1 paper

NM_001098537.3

p.G1230insFs

c.3689dupG

2 papers

NM_001098537.3

p.G1230fs

c.3688_3689fs