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.Q223delFs

c.668delA

Surrounding Variants

1 paper

NM_178040.4

p.Q223fs

c.667_668fs

1 paper

NM_178040.4

p.E221V

c.662A>T

1 paper

NM_178040.4

p.E220A

c.659A>C

1 paper

NM_178040.4

p.I208V

c.622A>G

1 paper

NM_178040.4

p.A205T

c.613G>A

1 paper

NM_178040.4

p.R201S

c.603A>C

1 paper

NM_178040.4

p.R201S

c.603A>T

1 paper

NM_178040.4

p.R201K

c.602G>A

1 paper

NM_178040.4

p.E193Q

c.577G>C

1 paper

NM_178040.4

p.N184Y

c.550A>T

1 paper

NM_178040.4

p.N165H

c.493A>C

1 paper

NM_178040.4

p.Q145*

c.433C>T