Varaico: Literature-Extracted Genetic Variants

RIMS2

107 papers

RefSeq Summary

The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic pr...

Pfam Domains

RIM2a_ZnFaa 132–184UCSCRIM2-alpha zinc finger

PDZaa 399–483UCSCPDZ domain

C2aa 550–660UCSCC2 domain

C2aa 1215–1322UCSCC2 domain

Gene Aliases

HGNC Name

regulating synaptic membrane exocytosis 2

HGNC Previous Symbol

RAB3IP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001348484.3

p.E35D

c.105G>C

Surrounding Variants

1 paper

NM_001348484.3

p.E36A

c.107A>C

1 paper

NM_001348484.3

p.R37K

c.110G>A

1 paper

NM_001348484.3

p.K38N

c.114A>C

1 paper

NM_001348484.3

p.K38N

c.114A>T

2 papers

NM_001348484.3

p.L29H

c.86T>A

1 paper

NM_001348484.3

p.A42A

c.126C>T

1 paper

NM_001348484.3

p.P27_D28insFs

c.81_82insA

1 paper

NM_001348484.3

p.R46delFs

c.138delG

1 paper

NM_001348484.3

p.Q23R

c.68A>G

1 paper

NM_001348484.3

p.K53E

c.157A>G

1 paper

NM_001348484.3

p.A16V

c.47C>T

1 paper

NM_001348484.3

p.S56S

c.168C>A