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.M600L

c.1798A>T

Surrounding Variants

1 paper

NM_016179.4

p.M600L

c.1798A>C

1 paper

NM_016179.4

p.E594delFs

c.1782delC

1 paper

NM_016179.4

p.I607M

c.1821C>G

1 paper

NM_016179.4

p.V611F

c.1831G>T

1 paper

NM_016179.4

p.I617V

c.1849A>G

1 paper

NM_016179.4

p.N580H

c.1738A>C

1 paper

NM_016179.4

p.N621H

c.1861A>C

1 paper

NM_016179.4

p.G577V

c.1730G>T

1 paper

NM_016179.4

p.S623A

c.1867T>G

1 paper

NM_016179.4

p.S574L

c.1721C>T

1 paper

NM_016179.4

p.S574*

c.1721C>G

1 paper

NM_016179.4

p.S574*

c.1721C>A