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

2 papers

NM_001348484.3

p.K61R

c.182A>G

Surrounding Variants

1 paper

NM_001348484.3

p.W71*

c.213G>A

1 paper

NM_001348484.3

p.G76R

c.226G>A

1 paper

NM_001348484.3

p.G76R

c.226G>C

1 paper

NM_001348484.3

p.V81_N82insA

c.241_245ins3

1 paper

NM_001348484.3

p.K95*

c.283A>T