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.R1083H

c.3248G>A

Surrounding Variants

1 paper

NM_001098537.3

p.W1080*

c.3240G>A

1 paper

NM_001098537.3

p.W1080*

c.3239G>A

1 paper

NM_001098537.3

p.S1089S

c.3267C>T

1 paper

NM_001098537.3

p.P1093L

c.3278C>T

1 paper

NM_001098537.3

p.P1098L

c.3293C>T

1 paper

NM_001098537.3

p.D1075N

c.3223G>A

1 paper

NM_001098537.3

p.D1064D

c.3192C>T

1 paper

NM_001098537.3

p.T1062I

c.3185C>T

1 paper

NM_001098537.3

p.P1057S

c.3169C>T

1 paper

NM_001098537.3

p.W1055R

c.3163T>C

1 paper

NM_001098537.3

p.W1055R

c.3163T>A

1 paper

NM_001098537.3

p.A1118V

c.3353C>T