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

1 paper

NM_004621.6

p.R160P

c.479G>C

Surrounding Variants

4 papers

NM_004621.6

p.G162R

c.484G>C

4 papers

NM_004621.6

p.G162R

c.484G>A

3 papers

NM_004621.6

p.G162V

c.485G>T

2 papers

NM_004621.6

p.N157T

c.470A>C

1 paper

NM_004621.6

p.A164P

c.490G>C

1 paper

NM_004621.6

p.E156insFs

c.467_468insT

1 paper

NM_004621.6

p.L153L

c.459C>T

1 paper

NM_004621.6

p.L167P

c.500T>C

1 paper

NM_004621.6

p.L152L

c.456T>A

1 paper

NM_004621.6

p.L167delFs

c.501delT

1 paper

NM_004621.6

p.L152insFs

c.454dupC

1 paper

NM_004621.6

p.A168fs

c.502_503fs