Varaico: Literature-Extracted Genetic Variants

CACNG5

36 papers

RefSeq Summary

The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a fu...

Pfam Domains

Claudin_2aa 8–156UCSCPMP-22/EMP/MP20/Claudin tight junction

Claudin_2aa 13–198UCSCPMP-22/EMP/MP20/Claudin tight junction

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 5

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145811.3

p.L108P

c.323T>C

Surrounding Variants

1 paper

NM_145811.3

p.I113F

c.337A>T

2 papers

NM_145811.3

p.R98H

c.293G>A

1 paper

NM_145811.3

p.M96T

c.287T>C

2 papers

NM_145811.3

p.R127Q

c.380G>A

1 paper

NM_145811.3

p.G142S

c.424G>A

1 paper

NM_145811.3

p.R71C

c.211C>T

1 paper

NM_145811.3

p.F63L

c.189C>A

1 paper

NM_145811.3

p.V61V

c.183C>A

2 papers

NM_145811.3

p.V61F

c.181G>T

1 paper

NM_145811.3

p.T48T

c.144C>T

1 paper

NM_145811.3

p.Q44insFs

c.130dupC

1 paper

NM_145811.3

p.I41V

c.121A>G