Varaico: Literature-Extracted Genetic Variants

ERC1

149 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-t...

Pfam Domains

Castaa 154–466UCSCRIM-binding protein of the cytomatrix active zone

Castaa 452–982UCSCRIM-binding protein of the cytomatrix active zone

RBD-FIPaa 1068–1108UCSCFIP domain

Gene Aliases

HGNC Name

ELKS/RAB6-interacting/CAST family member 1

HGNC Previous Symbol

RAB6IP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178040.4

p.K927Splc

c.2781-58C>T

Surrounding Variants

1 paper

NM_178040.4

p.A930D

c.2789C>A

1 paper

NM_178040.4

p.I935V

c.2803A>G

1 paper

NM_178040.4

p.S936N

c.2807G>A

1 paper

NM_178040.4

p.N941I

c.2822A>T

2 papers

NM_178040.4

p.S948L

c.2843C>T

1 paper

NM_178040.4

p.R963W

c.2887C>T

1 paper

NM_178040.4

p.Q971R

c.2912A>G

1 paper

NM_178040.4

p.Q975R

c.2924A>G