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.G76A

c.227G>C

Surrounding Variants

1 paper

NM_004621.6

p.K75*

c.223A>T

1 paper

NM_004621.6

p.K75Q

c.223A>C

2 papers

NM_004621.6

p.R73L

c.218G>T

2 papers

NM_004621.6

p.R73H

c.218G>A

1 paper

NM_004621.6

p.R73C

c.217C>T

1 paper

NM_004621.6

p.N81S

c.242A>G

2 papers

NM_004621.6

p.R82*

c.244C>T

1 paper

NM_004621.6

p.T70S

c.208A>T

1 paper

NM_004621.6

p.T70A

c.208A>G

1 paper

NM_004621.6

p.R68fs

c.202_203fs

8 papers

NM_004621.6

p.R68W

c.202C>T

1 paper

NM_004621.6

p.G59_R67insFs

c.177_201dup25