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.V726I

c.2176G>A

Surrounding Variants

1 paper

NM_014989.7

p.V726G

c.2177T>G

3 papers

NM_014989.7

p.S725F

c.2174C>T

1 paper

NM_014989.7

p.R721M

c.2162G>T

1 paper

NM_014989.7

p.E720K

c.2158G>A

1 paper

NM_014989.7

p.G733A

c.2198G>C

2 papers

NM_014989.7

p.Q717*

c.2149C>T

1 paper

NM_014989.7

p.V741F

c.2221G>T

1 paper

NM_014989.7

p.E701K

c.2101G>A

1 paper

NM_014989.7

p.R698Q

c.2093G>A

1 paper

NM_014989.7

p.P697_I699del3

c.2089_2096del9

1 paper

NM_014989.7

p.L750delFs

c.2248_2249delTT

1 paper

NM_014989.7

p.V761L

c.2281G>C