Varaico: Literature-Extracted Genetic Variants

Gene:ERC2
Variant:p.S177A

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.S177A
c.529T>G
Surrounding Variants
1 paper
NM_015576.3
p.L175F
c.525G>T
1 paper
NM_015576.3
p.L175F
c.525G>C
1 paper
NM_015576.3
p.E160D
c.480G>T
1 paper
NM_015576.3
p.E160D
c.480G>C
1 paper
NM_015576.3
p.V195A
c.584T>C
1 paper
NM_015576.3
p.R203_S205delFs
c.608_614del7
1 paper
NM_015576.3
p.T146A
c.436A>G
1 paper
NM_015576.3
p.R143*
c.427A>T
2 papers
NM_015576.3
p.R212W
c.634A>T
1 paper
NM_015576.3
p.N103S
c.308A>G
1 paper
NM_015576.3
p.R94H
c.281G>A
1 paper
NM_015576.3
p.G78S
c.232G>A
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