Varaico: Literature-Extracted Genetic Variants

Gene:ERC2
Variant:p.K659N

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
1 paper
NM_015576.3
p.K659N
c.1977A>C
Surrounding Variants
1 paper
NM_015576.3
p.K659N
c.1977A>T
1 paper
NM_015576.3
p.A654G
c.1961C>G
1 paper
NM_015576.3
p.E676Q
c.2026G>C
1 paper
NM_015576.3
p.K687M
c.2060A>T
1 paper
NM_015576.3
p.E640_S641Splc
c.1920+1292C>G
2 papers
NM_015576.3
p.A634T
c.1900G>A
1 paper
NM_015576.3
p.E610Q
c.1828G>C
1 paper
NM_015576.3
p.R609Q
c.1826G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."