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.D205G

c.614A>G

Surrounding Variants

1 paper

NM_004621.6

p.F206L

c.616T>C

1 paper

NM_004621.6

p.D204G

c.611A>G

1 paper

NM_004621.6

p.F206L

c.618T>G

1 paper

NM_004621.6

p.F206L

c.618T>A

1 paper

NM_004621.6

p.A208T

c.622G>A

2 papers

NM_004621.6

p.Y209C

c.626A>G

1 paper

NM_004621.6

p.E200D

c.600A>T

1 paper

NM_004621.6

p.E200D

c.600A>C

1 paper

NM_004621.6

p.E200A

c.599A>C

1 paper

NM_004621.6

p.D210E

c.630T>G

2 papers

NM_004621.6

p.D210E

c.630T>A

1 paper

NM_004621.6

p.S199A

c.595T>G