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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPG

ALPG

117 papers

RefSeq Summary

There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound gly...

Pfam Domains

Alk_phosphataseaa 52–487UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, germ cell

HGNC Previous Symbol

ALPPL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 88 variants

7 papers

chr2:232408301 C>G

NM_031313.3

p.P228R

c.683C>G

Alk_phosphatase

Exome: 6.4% (AC=88983, hom=5358)Genome: 10.4% (AC=15687, hom=977)47 overlapping SVs

4 papers

chr2:232407089 C>G

NM_031313.3

p.Q34E

c.100C>G

Exome: 0.2% (AC=2966, hom=30)Genome: 0.3% (AC=516, hom=3)46 overlapping SVs

4 papers

chr2:232407769 G>T

NM_031313.3

p.G159V

c.476G>T

exact variant not in gnomAD45 overlapping SVs

4 papers

chr2:232408397 A>G

NM_031313.3

p.H260R

c.779A>G

Alk_phosphatase

Exome: 4.8% (AC=54540, hom=24558)Genome: 3.7% (AC=3679, hom=91)47 overlapping SVs

4 papers

chr2:232408534 C>A

NM_031313.3

p.L273M

c.817C>A

Alk_phosphatase

Exome: 30.8% (AC=383606, hom=118295)Genome: 35.6% (AC=41432, hom=8970)47 overlapping SVs

3 papers

chr2:232408308 G>A

NM_031313.3

p.G230G

c.690G>A

Alk_phosphatase

Exome: 6.0% (AC=82973, hom=5364)Genome: 10.4% (AC=15698, hom=983)47 overlapping SVs

3 papers

chr2:232409415 G>C

NM_031313.3

p.G423R

c.1267G>C

Alk_phosphatase

Exome: 0.0% (AC=367, hom=15)Genome: 0.3% (AC=395, hom=1)46 overlapping SVs

3 papers

chr2:232409765 C>A

NM_031313.3

p.R498S

c.1492C>A

Exome: 8.5% (AC=124034, hom=6017)Genome: 8.2% (AC=12523, hom=598)47 overlapping SVs

3 papers

chr2:232409766 G>C

NM_031313.3

p.R498P

c.1493G>C

Exome: 6.4% (AC=90693, hom=4550)Genome: 8.2% (AC=12443, hom=539)47 overlapping SVs

2 papers

chr2:232406959 C>T

NM_031313.3

p.P22L

c.65C>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=3, hom=0)47 overlapping SVs

2 papers

chr2:232407173 G>A

NM_031313.3

p.G62R

c.184G>A

Alk_phosphatase

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=5, hom=0)46 overlapping SVs

2 papers

chr2:232407173 G>C

NM_031313.3

p.G62R

c.184G>C

Alk_phosphatase

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)46 overlapping SVs

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