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

Selected Variant

1 paper

NM_016179.4

p.K134E

c.400A>G

Surrounding Variants

1 paper

NM_016179.4

p.V127_P128delFs

c.381_382delGC

1 paper

NM_016179.4

p.V127fs

c.379_380fs

1 paper

NM_016179.4

p.V127delFs

c.379delC

1 paper

NM_016179.4

p.Q126_V127Splc

c.379-2A>T

1 paper

NM_016179.4

p.T152R

c.455C>G

2 papers

NM_016179.4

p.H172P

c.515A>C

1 paper

NM_016179.4

p.C176S

c.526T>A

1 paper

NM_016179.4

p.C176S

c.527G>C

1 paper

NM_016179.4

p.C178S

c.532T>A

1 paper

NM_016179.4

p.C178S

c.533G>C

1 paper

NM_016179.4

p.C181S

c.541T>A

1 paper

NM_016179.4

p.C181S

c.542G>C