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.R240W

c.718C>T

Surrounding Variants

1 paper

NM_004621.6

p.L239Q

c.716T>A

2 papers

NM_004621.6

p.K241N

c.723G>T

2 papers

NM_004621.6

p.K241N

c.723G>C

2 papers

NM_004621.6

p.G242V

c.725G>T

1 paper

NM_004621.6

p.T237_L238insFs

c.711_712ins4

1 paper

NM_004621.6

p.E246*

c.736G>T

1 paper

NM_004621.6

p.E246A

c.737A>C

1 paper

NM_004621.6

p.R247W

c.739C>T

1 paper

NM_004621.6

p.P248S

c.742C>T

1 paper

NM_004621.6

p.D250H

c.748G>C

1 paper

NM_004621.6

p.D250V

c.749A>T

1 paper

NM_004621.6

p.C229F

c.686G>T