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.S474T

c.1421G>C

Surrounding Variants

1 paper

NM_014989.7

p.R475delFs

c.1424_1425delGC

1 paper

NM_014989.7

p.R475C

c.1423C>T

1 paper

NM_014989.7

p.R475L

c.1424G>T

1 paper

NM_014989.7

p.R471R

c.1413G>A

1 paper

NM_014989.7

p.L470F

c.1408C>T

1 paper

NM_014989.7

p.P469R

c.1406C>G

1 paper

NM_014989.7

p.A481V

c.1442C>T

1 paper

NM_014989.7

p.P462L

c.1385C>T

1 paper

NM_014989.7

p.E490fs

c.1468_1469fs

1 paper

NM_014989.7

p.E490insFs

c.1469_1470insT

1 paper

NM_014989.7

p.P458H

c.1373C>A

1 paper

NM_014989.7

p.K491N

c.1473G>C