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.N394S

c.1181A>G

Surrounding Variants

1 paper

NM_004621.6

p.N394T

c.1181A>C

1 paper

NM_004621.6

p.N394K

c.1182T>A

1 paper

NM_004621.6

p.E393D

c.1179G>T

1 paper

NM_004621.6

p.E393D

c.1179G>C

1 paper

NM_004621.6

p.L395I

c.1183C>A

1 paper

NM_004621.6

p.Y392F

c.1175A>T

1 paper

NM_004621.6

p.G397D

c.1190G>A

1 paper

NM_004621.6

p.R399*

c.1195C>T

2 papers

NM_004621.6

p.R399Q

c.1196G>A

1 paper

NM_004621.6

p.T402fs

c.1204_1205fs

1 paper

NM_004621.6

p.Q386*

c.1156C>T

1 paper

NM_004621.6

p.T402Fs

c.1204_1206delinsCCFs