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

1–12 of 140 variants

3 papers

NM_178040.4

p.Q16H

c.48G>C

3 papers

NM_178040.4

p.Q16H

c.48G>T

3 papers

NM_178040.4

p.R631C

c.1891C>T

2 papers

NM_178040.4

p.G48C

c.142G>T

2 papers

NM_178040.4

p.R237Q

c.710G>A

2 papers

NM_178040.4

p.H344Q

c.1032T>A

2 papers

NM_178040.4

p.Q453Q

c.1359A>G

2 papers

NM_178040.4

p.Q555*

c.1663C>T

2 papers

NM_178040.4

p.R571Q

c.1712G>A

2 papers

NM_178040.4

p.R816Q

c.2447G>A

2 papers

NM_178040.4

p.S948L

c.2843C>T

2 papers

NM_178040.4

p.T1032A

c.3094A>G