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.S92S

c.276C>T

Surrounding Variants

1 paper

NM_004621.6

p.R91L

c.272G>T

3 papers

NM_004621.6

p.R91C

c.271C>T

1 paper

NM_004621.6

p.D90A

c.269A>C

2 papers

NM_004621.6

p.D90N

c.268G>A

1 paper

NM_004621.6

p.S89I

c.266G>T

1 paper

NM_004621.6

p.S89N

c.266G>A

2 papers

NM_004621.6

p.S89delFs

c.265delT

1 paper

NM_004621.6

p.S89fs

c.265_266fs

1 paper

NM_004621.6

p.S96F

c.287C>T

2 papers

NM_004621.6

p.A85_F88ins1

c.253_264dup12

1 paper

NM_004621.6

p.S96fs

c.286_287fs

1 paper

NM_004621.6

p.S96delFs

c.287delG