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.R526Q

c.1577G>A

Surrounding Variants

1 paper

NM_014989.7

p.G523G

c.1569C>G

1 paper

NM_014989.7

p.R518L

c.1553G>T

1 paper

NM_014989.7

p.K515E

c.1543A>G

1 paper

NM_014989.7

p.V538L

c.1612G>C

1 paper

NM_014989.7

p.V538L

c.1612G>T

1 paper

NM_014989.7

p.P513P

c.1539G>A

1 paper

NM_014989.7

p.R510R

c.1530G>A

1 paper

NM_014989.7

p.E542K

c.1624G>A

1 paper

NM_014989.7

p.E547K

c.1639G>A

1 paper

NM_014989.7

p.V549E

c.1646T>A

1 paper

NM_014989.7

p.D499N

c.1495G>A

1 paper

NM_014989.7

p.E554K

c.1660G>A