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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERC2

Variant:p.A835T

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

1 paper

chr3:55888450 C>T

NM_015576.3

p.A835T

c.2503G>A

Cast

Exome: 0.0% (AC=23, hom=0)Genome: n/a54 overlapping SVs

Surrounding Variants

1 paper

chr3:55888453 C>T

NM_015576.3

p.E834K

c.2500G>A

Cast

exact variant not in gnomAD54 overlapping SVs

2 papers

chr3:55888466 G>A

NM_015576.3

p.S829S

c.2487C>T

Cast

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)54 overlapping SVs

1 paper

chr3:55888431 C>T

NM_015576.3

p.R841Q

c.2522G>A

Cast

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)54 overlapping SVs

1 paper

chr3:55888482 G>T

NM_015576.3

p.A824D

c.2471C>A

Cast

Exome: 0.0% (AC=1, hom=0)Genome: n/a54 overlapping SVs

1 paper

chr3:55888528 G>C

NM_015576.3

p.L809V

c.2425C>G

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."