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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERC2

Variant:p.N542S

ERC2

109 papers

RefSeq Summary

This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and ...

Pfam Domains

Castaa 150–911UCSCRIM-binding protein of the cytomatrix active zone

Gene Aliases

HGNC Name

ELKS/RAB6-interacting/CAST family member 2

HGNC Alias Symbols

CAST1; KIAA0378; SPBC110; Spc110; ELKSL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr3:56080833 T>C

NM_015576.3

p.N542S

c.1625A>G

Cast

Exome: 5.6% (AC=82288, hom=3013)Genome: 4.3% (AC=6532, hom=233)54 overlapping SVs

Surrounding Variants

1 paper

chr3:56080850 C>T

NM_015576.3

p.V536V

c.1608G>A

Cast

exact variant not in gnomAD54 overlapping SVs

2 papers

chr3:56080876 G>A

NM_015576.3

p.R528C

c.1582C>T

Cast

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=4, hom=0)54 overlapping SVs

1 paper

chr3:56080877 A>C

NM_015576.3

p.I527M

c.1581T>G

Cast

exact variant not in gnomAD54 overlapping SVs

1 paper

chr3:56080916 C>A

NM_015576.3

p.Q514H

c.1542G>T

Cast

exact variant not in gnomAD54 overlapping SVs

1 paper

chr3:56080916 C>G

NM_015576.3

p.Q514H

c.1542G>C

Cast

exact variant not in gnomAD54 overlapping SVs

1 paper

chr3:56080921 G>T

NM_015576.3

p.L513I

c.1537C>A

Cast

exact variant not in gnomAD54 overlapping SVs

1 paper

chr3:56080924 G>A

NM_015576.3

p.Q512*

c.1534C>T

Cast

exact variant not in gnomAD54 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."