Varaico: Literature-Extracted Genetic Variants

Gene:ERC2

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
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
3 papers
NM_015576.3
p.N542S
c.1625A>G
2 papers
NM_015576.3
p.R212W
c.634A>T
2 papers
NM_015576.3
p.R528C
c.1582C>T
2 papers
NM_015576.3
p.A634T
c.1900G>A
2 papers
NM_015576.3
p.S829S
c.2487C>T
2 papers
NM_015576.3
p.R933Q
c.2798G>A
1 paper
NM_015576.3
p.N10insFs
c.28_29ins4
1 paper
NM_015576.3
p.E12A
c.35A>C
1 paper
NM_015576.3
p.R20H
c.59G>A
1 paper
NM_015576.3
p.P25S
c.73C>T
1 paper
NM_015576.3
p.R26C
c.76C>T
1 paper
NM_015576.3
p.R26G
c.76C>G
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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."