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.H454P

c.1361A>C

Surrounding Variants

1 paper

NM_014989.7

p.P452H

c.1355C>A

1 paper

NM_014989.7

p.A451A

c.1353G>A

1 paper

NM_014989.7

p.P458H

c.1373C>A

1 paper

NM_014989.7

p.P462L

c.1385C>T

1 paper

NM_014989.7

p.G440R

c.1318G>C

1 paper

NM_014989.7

p.P469R

c.1406C>G

1 paper

NM_014989.7

p.P439L

c.1316C>T

1 paper

NM_014989.7

p.L470F

c.1408C>T

1 paper

NM_014989.7

p.A438V

c.1313C>T

1 paper

NM_014989.7

p.A438delFs

c.1312delG

1 paper

NM_014989.7

p.R471R

c.1413G>A

1 paper

NM_014989.7

p.T436fs

c.1306_1307fs