Varaico: Literature-Extracted Genetic Variants

Gene:ERC2
Variant:p.E12A

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.E12A
c.35A>C
Surrounding Variants
1 paper
NM_015576.3
p.N10insFs
c.28_29ins4
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
1 paper
NM_015576.3
p.G28_H29ins4
c.82_86ins12
1 paper
NM_015576.3
p.R30Q
c.89G>A
1 paper
NM_015576.3
p.I49N
c.146T>A
1 paper
NM_015576.3
p.A57T
c.169G>A
1 paper
NM_015576.3
p.T58M
c.173C>T
1 paper
NM_015576.3
p.S65T
c.194G>C
1 paper
NM_015576.3
p.D66Y
c.196G>T
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