Varaico: Literature-Extracted Genetic Variants

CACNG6

27 papers

RefSeq Summary

Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particu...

Pfam Domains

Claudin_2aa 47–108UCSCPMP-22/EMP/MP20/Claudin tight junction

Claudin_2aa 47–139UCSCPMP-22/EMP/MP20/Claudin tight junction

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 6

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145814.2

p.R127fs

c.379_380fs

Surrounding Variants

1 paper

NM_145814.2

p.R127insFs

c.379dupC

1 paper

NM_145814.2

p.T122M

c.365C>T

1 paper

NM_145814.2

p.E136Splc

c.406+1G>A

1 paper

NM_145814.2

p.C114*

c.342C>A

1 paper

NM_145814.2

p.C114insFs

c.341_342insA

1 paper

NM_145814.2

p.C114fs

c.340_341fs

1 paper

NM_145814.2

p.G148D

c.443G>A

1 paper

NM_145814.2

p.C156_I160delFs

c.468_478del11

1 paper

NM_145814.2

p.L157fs

c.469_470fs

1 paper

NM_145814.2

p.C158Y

c.473G>A

2 papers

NM_145814.2

p.L163V

c.487C>G

1 paper

NM_145814.2

p.F169L

c.505T>C