Varaico: Literature-Extracted Genetic Variants

TRPC6

325 papers

RefSeq Summary

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylino...

Pfam Domains

Ank_2aa 102–190UCSCAnkyrin repeats (3 copies)

TRP_2aa 253–315UCSCTransient receptor ion channel II

YVC1_Caa 482–787UCSCCalcium channel YVC1-like, C-terminal

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily C member 6

HGNC Previous Symbol

FSGS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_004621.6

p.R215W

c.643C>T

Surrounding Variants

2 papers

NM_004621.6

p.R215G

c.643C>G

2 papers

NM_004621.6

p.R215Q

c.644G>A

1 paper

NM_004621.6

p.R215R

c.645G>A

1 paper

NM_004621.6

p.G213W

c.637G>T

16 papers

NM_004621.6

p.H218L

c.653A>T

1 paper

NM_004621.6

p.H218R

c.653A>G

1 paper

NM_004621.6

p.D210E

c.630T>G

2 papers

NM_004621.6

p.D210E

c.630T>A

2 papers

NM_004621.6

p.Y209C

c.626A>G

1 paper

NM_004621.6

p.T221A

c.661A>G

1 paper

NM_004621.6

p.A208T

c.622G>A

1 paper

NM_004621.6

p.I223V

c.667A>G