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.R42Q

c.125G>A

Surrounding Variants

1 paper

NM_014989.7

p.K49E

c.145A>G

2 papers

NM_014989.7

p.A52S

c.154G>T

1 paper

NM_014989.7

p.E32K

c.94G>A

1 paper

NM_014989.7

p.E30K

c.88G>A

1 paper

NM_014989.7

p.K55Splc

c.164+2T>C

1 paper

NM_014989.7

p.S26N

c.77G>A

1 paper

NM_014989.7

p.L25L

c.73C>T

1 paper

NM_014989.7

p.L22Q

c.65T>A

1 paper

NM_014989.7

p.P16R

c.47C>G

1 paper

NM_014989.7

p.V15L

c.43G>C

1 paper

NM_014989.7

p.G6_P7delFs

c.18_19delGC

2 papers

NM_014989.7

p.G6R

c.16G>A