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.N266S

c.797A>G

Surrounding Variants

1 paper

NM_178040.4

p.F267S

c.800T>C

1 paper

NM_178040.4

p.L283P

c.848T>C

2 papers

NM_178040.4

p.R237Q

c.710G>A

1 paper

NM_178040.4

p.Q226K

c.676C>A

1 paper

NM_178040.4

p.G320E

c.959G>A

1 paper

NM_178040.4

p.E328A

c.983A>C

1 paper

NM_178040.4

p.R335Q

c.1004G>A

1 paper

NM_178040.4

p.A339G

c.1016C>G

2 papers

NM_178040.4

p.H344Q

c.1032T>A

1 paper

NM_178040.4

p.K353K

c.1059G>A

1 paper

NM_178040.4

p.E356D

c.1068G>C

1 paper

NM_178040.4

p.E356D

c.1068G>T