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.K431_M432Splc

c.1293+4T>C

Surrounding Variants

1 paper

NM_004621.6

p.K431_M432Splc

c.1293+2T>C

1 paper

NM_004621.6

p.K431Q

c.1291A>C

1 paper

NM_004621.6

p.C429S

c.1286G>C

1 paper

NM_004621.6

p.C429S

c.1285T>A

1 paper

NM_004621.6

p.V413L

c.1237G>C

1 paper

NM_004621.6

p.L411F

c.1231C>T

20 papers

NM_004621.6

p.A404V

c.1211C>T

1 paper

NM_004621.6

p.M403delFs

c.1207delT

1 paper

NM_004621.6

p.M403fs

c.1207_1208fs

1 paper

NM_004621.6

p.T402Fs

c.1204_1206delinsCCFs

1 paper

NM_004621.6

p.T402fs

c.1204_1205fs

2 papers

NM_004621.6

p.R399Q

c.1196G>A