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.D380Y

c.1138G>T

Surrounding Variants

1 paper

NM_014677.5

p.R140C

c.418C>T

1 paper

NM_001348484.3

p.R385H

c.1154G>A

1 paper

NM_001348484.3

p.E370fs

c.1108_1109fs

1 paper

NM_001348484.3

p.R369delFs

c.1107delA

1 paper

NM_001348484.3

p.V358L

c.1072G>C

1 paper

NM_001348484.3

p.A406A

c.1218A>G

1 paper

NM_001348484.3

p.R342R

c.1026G>A

1 paper

NM_001348501.2

p.Y81_A82insA

c.241_245ins3

1 paper

NM_001348484.3

p.A446T

c.1336G>A

1 paper

NM_001348484.3

p.A309V

c.926C>T

1 paper

NM_001348484.3

p.T308A

c.922A>G

1 paper

NM_001348484.3

p.R452*

c.1354C>T