Varaico: Literature-Extracted Genetic Variants

TRPC4

112 papers

RefSeq Summary

This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by G...

Pfam Domains

Ank_2aa 37–127UCSCAnkyrin repeats (3 copies)

Ankaa 142–171UCSCAnkyrin repeat

TRP_2aa 176–238UCSCTransient receptor ion channel II

Ion_transaa 364–632UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily C member 4

HGNC Alias Symbols

HTRP4; TRP4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 127 variants

4 papers

NM_016179.4

p.S183S

c.549C>A

4 papers

NM_016179.4

p.S185*

c.554C>A

3 papers

NM_016179.4

p.I957V

c.2869A>G

2 papers

NM_016179.4

p.R17L

c.50G>T

2 papers

NM_016179.4

p.R17H

c.50G>A

2 papers

NM_016179.4

p.H172P

c.515A>C

2 papers

NM_016179.4

p.L374F

c.1122G>T

2 papers

NM_016179.4

p.L374F

c.1122G>C

2 papers

NM_016179.4

p.L379del1

c.1135_1136delCAG

2 papers

NM_016179.4

p.E648K

c.1942G>A

2 papers

NM_016179.4

p.R894Q

c.2681G>A

2 papers

NM_016179.4

p.Y959F

c.2876A>T