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

1–12 of 111 variants

4 papers

NM_001098537.3

p.Q1050*

c.3148C>T

3 papers

NM_001098537.3

p.S8fs

c.22_23fs

3 papers

NM_001098537.3

p.G1148E

c.3443G>A

2 papers

NM_001098537.3

p.S8insFs

c.22dupA

2 papers

NM_001098537.3

p.R109Q

c.326G>A

2 papers

NM_001098537.3

p.R125H

c.374G>A

2 papers

NM_001098537.3

p.R270W

c.808C>T

2 papers

NM_001098537.3

p.L1025F

c.3073C>T

2 papers

NM_001098537.3

p.G1230fs

c.3688_3689fs

1 paper

NM_001098537.3

p.L36_T37del1

c.108_110delGTC

1 paper

NM_001098537.3

p.R74W

c.220C>T

1 paper

NM_001098537.3

p.R86W

c.256C>T