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.E813*

c.2437G>T

Surrounding Variants

1 paper

NM_178040.4

p.A814S

c.2440G>T

1 paper

NM_178040.4

p.R815*

c.2443C>T

2 papers

NM_178040.4

p.R816Q

c.2447G>A

1 paper

NM_178040.4

p.D819Y

c.2455G>T

1 paper

NM_178040.4

p.N820S

c.2459A>G

1 paper

NM_178040.4

p.N822K

c.2466C>A

1 paper

NM_178040.4

p.N822K

c.2466C>G

1 paper

NM_178040.4

p.E803fs

c.2407_2408fs

1 paper

NM_178040.4

p.Q826*

c.2476C>T

1 paper

NM_178040.4

p.H798Y

c.2392C>T

1 paper

NM_178040.4

p.V786L

c.2356G>T