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

30 papers

NM_004621.6

p.N143S

c.428A>G

Surrounding Variants

2 papers

NM_004621.6

p.E144Q

c.430G>C

2 papers

NM_004621.6

p.E144D

c.432G>T

2 papers

NM_004621.6

p.E144D

c.432G>C

1 paper

NM_004621.6

p.H145N

c.433C>A

6 papers

NM_004621.6

p.H145R

c.434A>G

1 paper

NM_004621.6

p.V141L

c.421G>T

1 paper

NM_004621.6

p.V141L

c.421G>C

2 papers

NM_004621.6

p.T149T

c.447A>T

1 paper

NM_004621.6

p.A136V

c.407C>T

2 papers

NM_004621.6

p.L151F

c.451C>T

1 paper

NM_004621.6

p.N135T

c.404A>C

1 paper

NM_004621.6

p.L152fs

c.454_455fs