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

3 papers

NM_004621.6

p.F102I

c.304T>A

Surrounding Variants

1 paper

NM_004621.6

p.R101C

c.301C>T

1 paper

NM_004621.6

p.E100A

c.299A>C

1 paper

NM_004621.6

p.A105G

c.314C>G

2 papers

NM_004621.6

p.E98V

c.293A>T

2 papers

NM_004621.6

p.E107Q

c.319G>C

1 paper

NM_004621.6

p.S96fs

c.286_287fs

1 paper

NM_004621.6

p.S96delFs

c.287delG

1 paper

NM_004621.6

p.S96F

c.287C>T

22 papers

NM_004621.6

p.G109S

c.325G>A

5 papers

NM_004621.6

p.G109D

c.326G>A

6 papers

NM_004621.6

p.N110H

c.328A>C

3 papers

NM_004621.6

p.N110S

c.329A>G