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

2 papers

NM_014989.7

p.S288C

c.862A>T

Surrounding Variants

1 paper

NM_014989.7

p.G284A

c.851G>C

1 paper

NM_014989.7

p.R292C

c.874C>T

1 paper

NM_014989.7

p.V293M

c.877G>A

1 paper

NM_014989.7

p.K295N

c.885G>C

1 paper

NM_014989.7

p.Q299insFs

c.896_897insT

1 paper

NM_014989.7

p.K273fs

c.817_818fs

1 paper

NM_014989.7

p.K273delFs

c.817delA

1 paper

NM_014989.7

p.E306*

c.916G>T

3 papers

NM_014989.7

p.R310H

c.929G>A

2 papers

NM_014989.7

p.R317Q

c.950G>A

1 paper

NM_014989.7

p.E320Q

c.958G>C

1 paper

NM_014989.7

p.S324L

c.971C>T