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.E645D

c.1935G>T

Surrounding Variants

1 paper

NM_178040.4

p.E645D

c.1935G>C

1 paper

NM_178039.4

p.Q616H

c.1848A>C

1 paper

NM_178039.4

p.Q616H

c.1848A>T

1 paper

NM_178040.4

p.R638I

c.1913G>T

3 papers

NM_178040.4

p.R631C

c.1891C>T

1 paper

NM_178040.4

p.R627Q

c.1880G>A

1 paper

NM_178040.4

p.E626*

c.1876G>T

1 paper

NM_178040.4

p.S669L

c.2006C>T

1 paper

NM_178040.4

p.T616T

c.1848A>T

1 paper

NM_178040.4

p.K692R

c.2075A>G

1 paper

NM_178040.4

p.K692K

c.2076G>A

1 paper

NM_178040.4

p.E708A

c.2123A>C