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.S431N

c.1292G>A

Surrounding Variants

1 paper

NM_178040.4

p.H432R

c.1295A>G

1 paper

NM_178040.4

p.S433C

c.1298C>G

1 paper

NM_178040.4

p.N438S

c.1313A>G

1 paper

NM_178040.4

p.E417D

c.1251G>C

1 paper

NM_178040.4

p.E417D

c.1251G>T

1 paper

NM_178040.4

p.E402K

c.1204G>A

1 paper

NM_178040.4

p.R396C

c.1186C>T

1 paper

NM_178040.4

p.S393F

c.1178C>T

1 paper

NM_178040.4

p.I391M

c.1173T>G

1 paper

NM_178040.4

p.K387_D388Splc

c.1162-1G>A

2 papers

NM_178040.4

p.Q453Q

c.1359A>G

1 paper

NM_178040.4

p.A462T

c.1384G>A