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

7 papers

NM_014989.7

p.R820H

c.2459G>A

Surrounding Variants

1 paper

NM_014989.7

p.L805P

c.2414T>C

1 paper

NM_014989.7

p.K803I

c.2408A>T

1 paper

NM_014989.7

p.Q839*

c.2515C>T

1 paper

NM_014989.7

p.L846F

c.2536C>T

1 paper

NM_014989.7

p.E848_I849Splc

c.2544+4A>G

1 paper

NM_014989.7

p.L853V

c.2557T>G

1 paper

NM_014989.7

p.T855I

c.2564C>T

2 papers

NM_014989.7

p.D859N

c.2575G>A

1 paper

NM_014989.7

p.L877V

c.2629C>G

1 paper

NM_014989.7

p.K896_K897insT

c.2686_2690ins3

1 paper

NM_014989.7

p.S791Splc

c.2372+6G>A

1 paper

NM_014989.7

p.S791fs

c.2371_2372fs