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.S290G

c.868A>G

Surrounding Variants

1 paper

NM_004621.6

p.E291Q

c.871G>C

1 paper

NM_004621.6

p.L288F

c.864G>T

1 paper

NM_004621.6

p.L288F

c.864G>C

1 paper

NM_004621.6

p.D292Y

c.874G>T

1 paper

NM_004621.6

p.Y285F

c.854A>T

5 papers

NM_004621.6

p.A284V

c.851C>T

1 paper

NM_004621.6

p.A284T

c.850G>A

2 papers

NM_004621.6

p.T296M

c.887C>T

2 papers

NM_004621.6

p.T296T

c.888G>A

4 papers

NM_004621.6

p.A297V

c.890C>T

1 paper

NM_004621.6

p.T296delFs

c.888delC

1 paper

NM_004621.6

p.A297A

c.891T>C