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

17 papers

NM_004621.6

p.R175Q

c.524G>A

Surrounding Variants

13 papers

NM_004621.6

p.R175W

c.523C>T

1 paper

NM_004621.6

p.V177M

c.529G>A

1 paper

NM_004621.6

p.V177A

c.530T>C

2 papers

NM_004621.6

p.Y173C

c.518A>G

3 papers

NM_004621.6

p.Y173D

c.517T>G

1 paper

NM_004621.6

p.A179T

c.535G>A

1 paper

NM_004621.6

p.I180F

c.538A>T

1 paper

NM_004621.6

p.L181R

c.542T>G

1 paper

NM_004621.6

p.A168del1

c.502_504delAGC

1 paper

NM_004621.6

p.A168fs

c.502_503fs

1 paper

NM_004621.6

p.L167delFs

c.501delT

1 paper

NM_004621.6

p.L167P

c.500T>C