Varaico: Literature-Extracted Genetic Variants

CACNG7

32 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 18–197UCSCPMP-22/EMP/MP20/Claudin tight junction

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 7

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

1 paper

NM_031896.5

p.M1I

c.3G>A

1 paper

NM_031896.5

p.R7H

c.20G>A

1 paper

NM_031896.5

p.L9L

c.25C>T

1 paper

NM_031896.5

p.A18V

c.53C>T

1 paper

NM_031896.5

p.G20A

c.59G>C

1 paper

NM_031896.5

p.I26I

c.78C>T

1 paper

NM_031896.5

p.D31V

c.92A>T

1 paper

NM_031896.5

p.V50L

c.148G>C

1 paper

NM_031896.5

p.F63L

c.189C>A

1 paper

NM_031896.5

p.G66insFs

c.198dupT

1 paper

NM_031896.5

p.E76K

c.226G>A

1 paper

NM_031896.5

p.T90M

c.269C>T