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

1–12 of 331 variants

7 papers

NM_014989.7

p.R820H

c.2459G>A

7 papers

NM_014989.7

p.K1046delFs

c.3136delA

6 papers

NM_014989.7

p.R1144*

c.3430C>T

4 papers

NM_014989.7

p.T1047fs

c.3139_3140fs

3 papers

NM_014989.7

p.R310H

c.929G>A

3 papers

NM_014989.7

p.S725F

c.2174C>T

3 papers

NM_014989.7

p.W1061*

c.3182G>A

3 papers

NM_014989.7

p.W1061*

c.3183G>A

3 papers

NM_014989.7

p.C1088*

c.3264C>A

2 papers

NM_014989.7

p.G6R

c.16G>A

2 papers

NM_014989.7

p.A52S

c.154G>T

2 papers

NM_014989.7

p.R71G

c.211A>G