Varaico: Literature-Extracted Genetic Variants

RIMS1

299 papers

RefSeq Summary

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neu...

Pfam Domains

RIM2a_ZnFaa 116–168UCSCRIM2-alpha zinc finger

PDZaa 605–689UCSCPDZ domain

C2aa 757–867UCSCC2 domain

C2aa 1551–1658UCSCC2 domain

Gene Aliases

HGNC Name

regulating synaptic membrane exocytosis 1

HGNC Previous Symbols

RAB3IP2; CORD7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014989.7

p.E74V

c.221A>T

Surrounding Variants

1 paper

NM_014989.7

p.E74K

c.220G>A

1 paper

NM_014989.7

p.A73D

c.218C>A

1 paper

NM_014989.7

p.Q76H

c.228G>T

2 papers

NM_014989.7

p.R71G

c.211A>G

1 paper

NM_014989.7

p.Q79L

c.236A>T

1 paper

NM_014989.7

p.T69K

c.206C>A

1 paper

NM_014989.7

p.P80fs

c.238_239fs

1 paper

NM_014989.7

p.K68R

c.203A>G

1 paper

NM_014989.7

p.S81*

c.242C>G

1 paper

NM_014989.7

p.P82S

c.244C>T

1 paper

NM_014989.7

p.K63delFs

c.189delG

1 paper

NM_014989.7

p.A62V

c.185C>T