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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G1B

Variant:p.S108Splc

PLA2G1B

178 papers

RefSeq Summary

This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of ...

Pfam Domains

Phospholip_A2_1aa 24–138UCSCPhospholipase A2

Gene Aliases

HGNC Name

phospholipase A2 group IB

HGNC Previous Symbols

PLA2; PPLA2; PLA2A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:120324933 C>T

NM_000928.3

p.S108Splc

c.322+1G>A

Phospholip_A2_1

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

Surrounding Variants

2 papers

chr12:120324961 A>T

NM_000928.3

p.C99S

c.295T>A

Phospholip_A2_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr12:120324962 C>T

NM_000928.3

p.S98S

c.294G>A

Phospholip_A2_1

Exome: 15.3% (AC=223515, hom=18920)Genome: 21.8% (AC=33198, hom=4611)13 overlapping SVs

1 paper

chr12:120324974 G>A

NM_000928.3

p.T94T

c.282C>T

Phospholip_A2_1

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:120324976 T>C

NM_000928.3

p.T94A

c.280A>G

Phospholip_A2_1

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:120324986 C>T

NM_000928.3

p.P90P

c.270G>A

Phospholip_A2_1

Exome: 0.0% (AC=43, hom=1)Genome: 0.0% (AC=8, hom=0)13 overlapping SVs

1 paper

chr12:120324989 G>C

NM_000928.3

p.N89K

c.267C>G

Phospholip_A2_1

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:120324989 G>T

NM_000928.3

p.N89K

c.267C>A

Phospholip_A2_1

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:120324990 T>G

NM_000928.3

p.N89T

c.266A>C

Phospholip_A2_1

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:120324999 A>T

NM_000928.3

p.L86Q

c.257T>A

Phospholip_A2_1

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:120325003 A>G

NM_000928.3

p.F85L

c.253T>C

Phospholip_A2_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr12:120325012 T>C

NM_000928.3

p.S82G

c.244A>G

Phospholip_A2_1

Exome: 0.0% (AC=319, hom=0)Genome: 0.0% (AC=35, hom=0)13 overlapping SVs

1 paper

chr12:120325034 A>G

NM_000928.3

p.Y74Y

c.222T>C

Phospholip_A2_1

Exome: 6.1% (AC=89507, hom=3839)Genome: 6.5% (AC=9886, hom=434)13 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."