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.E580Q

c.1738G>C

Surrounding Variants

1 paper

NM_001348484.3

p.E560K

c.1678G>A

1 paper

NM_001348484.3

p.G548R

c.1642G>C

1 paper

NM_001348484.3

p.S532*

c.1595C>A

1 paper

NM_001348484.3

p.S532*

c.1595C>G

1 paper

NM_001348484.3

p.M521K

c.1562T>A

1 paper

NM_001348484.3

p.E519V

c.1556A>T

1 paper

NM_001348484.3

p.K517_M518delFs

c.1549_1553del5

1 paper

NM_001348484.3

p.R493_R494del2

c.1477_1481del6

1 paper

NM_001348484.3

p.R452*

c.1354C>T

1 paper

NM_001348484.3

p.A446T

c.1336G>A

1 paper

NM_001348484.3

p.A406A

c.1218A>G

1 paper

NM_001348484.3

p.R385H

c.1154G>A