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

7 papers

NM_014989.7

p.K1046delFs

c.3136delA

Surrounding Variants

1 paper

NM_014989.7

p.Y1045C

c.3134A>G

4 papers

NM_014989.7

p.T1047fs

c.3139_3140fs

1 paper

NM_014989.7

p.L1048*

c.3143T>A

1 paper

NM_014989.7

p.L1048*

c.3143T>G

3 papers

NM_014989.7

p.W1061*

c.3182G>A

3 papers

NM_014989.7

p.W1061*

c.3183G>A

1 paper

NM_014989.7

p.L1068P

c.3203T>C

1 paper

NM_014989.7

p.A1070T

c.3208G>A

1 paper

NM_014989.7

p.H1071insFs

c.3211_3212insGT

3 papers

NM_014989.7

p.C1088*

c.3264C>A

1 paper

NM_014989.7

p.S1091L

c.3272C>T

1 paper

NM_014989.7

p.T1097N

c.3290C>A