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

2 papers

NM_178040.4

p.R571Q

c.1712G>A

Surrounding Variants

1 paper

NM_178040.4

p.L576P

c.1727T>C

2 papers

NM_178040.4

p.Q555*

c.1663C>T

1 paper

NM_178040.4

p.E550*

c.1648G>T

1 paper

NM_178040.4

p.Q544Q

c.1632A>G

1 paper

NM_178040.4

p.E535A

c.1604A>C

1 paper

NM_178040.4

p.D525Y

c.1573G>T