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

1–12 of 475 variants

60 papers

NM_004621.6

p.R895C

c.2683C>T

53 papers

NM_004621.6

p.P112Q

c.335C>A

48 papers

NM_004621.6

p.E897K

c.2689G>A

30 papers

NM_004621.6

p.N143S

c.428A>G

29 papers

NM_004621.6

p.S270T

c.808T>A

26 papers

NM_004621.6

p.M132T

c.395T>C

24 papers

NM_004621.6

p.K874*

c.2620A>T

23 papers

NM_004621.6

p.N125S

c.374A>G

22 papers

NM_004621.6

p.G109S

c.325G>A

22 papers

NM_004621.6

p.R895L

c.2684G>T

21 papers

NM_004621.6

p.Q889K

c.2665C>A

20 papers

NM_004621.6

p.A404V

c.1211C>T