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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G2D

Variant:p.P56R

PLA2G2D

34 papers

RefSeq Summary

This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid e...

Pfam Domains

Phospholip_A2_1aa 22–131UCSCPhospholipase A2

Gene Aliases

HGNC Name

phospholipase A2 group IID

HGNC Alias Symbol

sPLA2S

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:20116351 G>C

NM_012400.4

p.P56R

c.167C>G

Phospholip_A2_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a69 overlapping SVs

Surrounding Variants

1 paper

chr1:20116372 C>A

NM_012400.4

p.G49V

c.146G>T

Phospholip_A2_1

exact variant not in gnomAD69 overlapping SVs

1 paper

chr1:20116373 C>A

NM_012400.4

p.G49*

c.145G>T

Phospholip_A2_1

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)69 overlapping SVs

1 paper

chr1:20116373 C>G

NM_012400.4

p.G49R

c.145G>C

Phospholip_A2_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a69 overlapping SVs

1 paper

chr1:20116373 C>T

NM_012400.4

p.G49R

c.145G>A

Phospholip_A2_1

Exome: 0.0% (AC=141, hom=0)Genome: 0.0% (AC=52, hom=0)69 overlapping SVs

1 paper

chr1:20116373 TCC>N

NM_012400.4

p.G49fs

c.145_146fs

Phospholip_A2_1

exact variant not in gnomAD69 overlapping SVs

3 papers

chr1:20116385 C>T

NM_012400.4

p.G45S

c.133G>A

Phospholip_A2_1

Exome: 0.6% (AC=9326, hom=37)Genome: 0.4% (AC=555, hom=1)69 overlapping SVs

1 paper

chr1:20116418 C>G

NM_012400.4

p.G34R

c.100G>C

Phospholip_A2_1

exact variant not in gnomAD69 overlapping SVs

1 paper

chr1:20116418 C>T

NM_012400.4

p.G34R

c.100G>A

Phospholip_A2_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a69 overlapping SVs

1 paper

chr1:20116435 A>G

NM_012400.4

p.M28T

c.83T>C

Phospholip_A2_1

Exome: 0.0% (AC=449, hom=0)Genome: 0.0% (AC=19, hom=0)69 overlapping SVs

9 papers

chr1:20115561 T>C

NM_012400.4

p.S80G

c.238A>G

Phospholip_A2_1

Exome: 61.0% (AC=889295, hom=276133)Genome: 69.9% (AC=106226, hom=38657)69 overlapping SVs

1 paper

chr1:20115536 T>A

NM_012400.4

p.Y88F

c.263A>T

Phospholip_A2_1

exact variant not in gnomAD69 overlapping SVs

1 paper

chr1:20115524 T>C

NM_012400.4

p.Q92R

c.275A>G

Phospholip_A2_1

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)69 overlapping SVs

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