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

2 papers

NM_016179.4

p.E648K

c.1942G>A

Surrounding Variants

1 paper

NM_016179.4

p.E649K

c.1945G>A

1 paper

NM_016179.4

p.P654S

c.1960C>T

1 paper

NM_016179.4

p.A638T

c.1912G>A

1 paper

NM_016179.4

p.W667C

c.2001G>T

1 paper

NM_016179.4

p.W667C

c.2001G>C

1 paper

NM_016179.4

p.K685E

c.2053A>G

1 paper

NM_016179.4

p.P686T

c.2056C>A

1 paper

NM_016179.4

p.S623A

c.1867T>G

1 paper

NM_016179.4

p.N621H

c.1861A>C

1 paper

NM_016179.4

p.I617V

c.1849A>G

1 paper

NM_016179.4

p.V611F

c.1831G>T

1 paper

NM_016179.4

p.I607M

c.1821C>G