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.N135T

c.404A>C

Surrounding Variants

1 paper

NM_004621.6

p.A136V

c.407C>T

5 papers

NM_004621.6

p.Q134P

c.401A>C

26 papers

NM_004621.6

p.M132T

c.395T>C

5 papers

NM_004621.6

p.D130V

c.389A>T

1 paper

NM_004621.6

p.D130A

c.389A>C

1 paper

NM_004621.6

p.V141L

c.421G>T

1 paper

NM_004621.6

p.V141L

c.421G>C

30 papers

NM_004621.6

p.N143S

c.428A>G

2 papers

NM_004621.6

p.E144Q

c.430G>C

2 papers

NM_004621.6

p.E144D

c.432G>T

1 paper

NM_004621.6

p.V126F

c.376G>T

2 papers

NM_004621.6

p.E144D

c.432G>C