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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CALY

CALY

22 papers

RefSeq Summary

The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic ...

Pfam Domains

Calcyonaa 1–207UCSCD1 dopamine receptor-interacting protein (calcyon)

Gene Aliases

HGNC Name

calcyon neuron specific vesicular protein

HGNC Previous Symbol

DRD1IP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 14 variants

1 paper

chr10:133328953 C>T

NM_015722.4

p.G13S

c.37G>A

Calcyon

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

1 paper

chr10:133328871 G>A

NM_015722.4

p.P40L

c.119C>T

Calcyon

Exome: 0.0% (AC=138, hom=0)Genome: 0.1% (AC=98, hom=0)14 overlapping SVs

1 paper

chr10:133327999 T>A

NM_015722.4

p.Q51L

c.152A>T

Calcyon

exact variant not in gnomAD14 overlapping SVs

1 paper

chr10:133327996 G>C

NM_015722.4

p.T52R

c.155C>G

Calcyon

exact variant not in gnomAD14 overlapping SVs

1 paper

chr10:133327978 G>A

NM_015722.4

p.S58F

c.173C>T

Calcyon

exact variant not in gnomAD14 overlapping SVs

1 paper

chr10:133326957 G>T

NM_015722.4

p.A94E

c.281C>A

Calcyon

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr10:133326886 G>A

NM_015722.4

p.L118L

c.352C>T

Calcyon

Exome: 0.1% (AC=940, hom=1)Genome: 0.0% (AC=72, hom=0)14 overlapping SVs

1 paper

chr10:133326093 C>T

NM_015722.4

p.E130K

c.388G>A

Calcyon

exact variant not in gnomAD14 overlapping SVs

1 paper

chr10:133326068 G>T

NM_015722.4

p.P138H

c.413C>A

Calcyon

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr10:133326066 C>T

NM_015722.4

p.E139K

c.415G>A

Calcyon

Exome: 0.4% (AC=5626, hom=22)Genome: 0.5% (AC=730, hom=7)14 overlapping SVs

1 paper

chr10:133326041 G>A

NM_015722.4

p.A147V

c.440C>T

Calcyon

Exome: 0.0% (AC=0, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr10:133326018 G>T

NM_015722.4

p.R155S

c.463C>A

Calcyon

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

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