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.Q108_A110delFs

c.323_330del8

Surrounding Variants

1 paper

NM_001098537.3

p.Q108_A110del3

c.322_329del9

2 papers

NM_001098537.3

p.R109Q

c.326G>A

1 paper

NM_001098537.3

p.L105R

c.314T>G

1 paper

NM_001098537.3

p.A120V

c.359C>T

1 paper

NM_001098537.3

p.P96P

c.288C>G

2 papers

NM_001098537.3

p.R125H

c.374G>A

1 paper

NM_001098537.3

p.Y130*

c.390C>G

1 paper

NM_001098537.3

p.Y130*

c.390C>A

1 paper

NM_001098537.3

p.V168I

c.502G>A

1 paper

NM_001098537.3

p.P177L

c.530C>T

1 paper

NM_001098537.3

p.R86W

c.256C>T

1 paper

NM_001098537.3

p.R74W

c.220C>T