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.I111I

c.333C>T

Surrounding Variants

1 paper

NM_004621.6

p.P112L

c.335C>T

2 papers

NM_004621.6

p.P112R

c.335C>G

53 papers

NM_004621.6

p.P112Q

c.335C>A

1 paper

NM_004621.6

p.P112P

c.336A>C

1 paper

NM_004621.6

p.V113M

c.337G>A

3 papers

NM_004621.6

p.N110S

c.329A>G

6 papers

NM_004621.6

p.N110H

c.328A>C

5 papers

NM_004621.6

p.G109D

c.326G>A

22 papers

NM_004621.6

p.G109S

c.325G>A

1 paper

NM_004621.6

p.R115G

c.343C>G

2 papers

NM_004621.6

p.E107Q

c.319G>C

1 paper

NM_004621.6

p.A105G

c.314C>G