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.A403A

c.1209G>A

Surrounding Variants

1 paper

NM_014989.7

p.E399K

c.1195G>A

1 paper

NM_014989.7

p.A409V

c.1226C>T

1 paper

NM_014989.7

p.D392E

c.1176C>A

1 paper

NM_014989.7

p.D392E

c.1176C>G

1 paper

NM_014989.7

p.A417A

c.1251C>T

1 paper

NM_014989.7

p.R418W

c.1252A>T

2 papers

NM_014989.7

p.S420W

c.1259C>G

2 papers

NM_014989.7

p.E387K

c.1159G>A

1 paper

NM_014989.7

p.A379T

c.1135G>A

1 paper

NM_014989.7

p.E431D

c.1293G>C

1 paper

NM_014989.7

p.E431D

c.1293G>T

1 paper

NM_014989.7

p.R432G

c.1294A>G