Varaico: Literature-Extracted Genetic Variants

Gene:ERC2
Variant:p.R933Q

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
Selected Variant
2 papers
NM_015576.3
p.R933Q
c.2798G>A
Surrounding Variants
1 paper
NM_015576.3
p.H925_H926del1
c.2775_2777delTGG
1 paper
NM_015576.3
p.H925_H926del2
c.2773_2777del6
1 paper
NM_015576.3
p.Q939P
c.2816A>C
1 paper
NM_015576.3
p.P947A
c.2839C>G
1 paper
NM_015576.3
p.P947L
c.2840C>T
1 paper
NM_015576.3
p.D914G
c.2741A>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."