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.Y283*

c.849T>G

Surrounding Variants

1 paper

NM_001098537.3

p.Y283*

c.849T>A

1 paper

NM_001098537.3

p.P284L

c.851C>T

1 paper

NM_001098537.3

p.E281D

c.843G>T

1 paper

NM_001098537.3

p.E281Q

c.841G>C

1 paper

NM_001098537.3

p.R270Q

c.809G>A

2 papers

NM_001098537.3

p.R270W

c.808C>T

1 paper

NM_001098537.3

p.R261H

c.782G>A

1 paper

NM_001098537.3

p.S259Y

c.776C>A

1 paper

NM_001098537.3

p.L306L

c.918G>T

1 paper

NM_001098537.3

p.A319_E320Splc

c.957+34G>A

1 paper

NM_001098537.3

p.A323_A330del8

c.967_989del24

1 paper

NM_001098537.3

p.K338N

c.1014G>T