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.T53A

c.157A>G

Surrounding Variants

2 papers

NM_178040.4

p.G48C

c.142G>T

1 paper

NM_178040.4

p.S61C

c.182C>G

1 paper

NM_178040.4

p.A64D

c.191C>A

1 paper

NM_178040.4

p.D76D

c.228C>T

1 paper

NM_178040.4

p.P28H

c.83C>A

1 paper

NM_178040.4

p.R26H

c.77G>A

1 paper

NM_178040.4

p.V80L

c.238G>C

1 paper

NM_178040.4

p.V80L

c.238G>T

1 paper

NM_178040.4

p.S82S

c.246A>T

1 paper

NM_178040.4

p.R20H

c.59G>A

1 paper

NM_178040.4

p.P18P

c.54T>A

3 papers

NM_178040.4

p.Q16H

c.48G>C