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.R1161G

c.3481A>G

Surrounding Variants

1 paper

NM_014989.7

p.P1157L

c.3470C>T

6 papers

NM_014989.7

p.R1144*

c.3430C>T

1 paper

NM_014989.7

p.R1133Splc

c.3398+8A>G

1 paper

NM_014989.7

p.A1115T

c.3343G>A

1 paper

NM_014989.7

p.D1110G

c.3329A>G

1 paper

NM_014989.7

p.T1097N

c.3290C>A

1 paper

NM_014989.7

p.S1091L

c.3272C>T

3 papers

NM_014989.7

p.C1088*

c.3264C>A

1 paper

NM_014989.7

p.H1071insFs

c.3211_3212insGT

1 paper

NM_014989.7

p.A1070T

c.3208G>A

1 paper

NM_014989.7

p.L1068P

c.3203T>C

3 papers

NM_014989.7

p.W1061*

c.3183G>A