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.R895H

c.2684G>A

Surrounding Variants

22 papers

NM_004621.6

p.R895L

c.2684G>T

60 papers

NM_004621.6

p.R895C

c.2683C>T

3 papers

NM_004621.6

p.Y896N

c.2686T>A

1 paper

NM_004621.6

p.L894I

c.2680C>A

48 papers

NM_004621.6

p.E897K

c.2689G>A

1 paper

NM_004621.6

p.S893I

c.2678G>T

2 papers

NM_004621.6

p.S893N

c.2678G>A

2 papers

NM_004621.6

p.L899F

c.2695C>T

1 paper

NM_004621.6

p.L899H

c.2696T>A

1 paper

NM_004621.6

p.D890H

c.2668G>C

1 paper

NM_004621.6

p.D890N

c.2668G>A

1 paper

NM_004621.6

p.E901*

c.2701G>T