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.L227I

c.679C>A

Surrounding Variants

1 paper

NM_016179.4

p.K232K

c.696G>A

1 paper

NM_016179.4

p.V233L

c.697G>C

1 paper

NM_016179.4

p.S239P

c.715T>C

1 paper

NM_016179.4

p.S212L

c.635C>T

1 paper

NM_016179.4

p.S212A

c.634T>G

1 paper

NM_016179.4

p.C248S

c.742T>A

1 paper

NM_016179.4

p.C248S

c.743G>C

1 paper

NM_016179.4

p.S205I

c.614G>T

1 paper

NM_016179.4

p.K201N

c.603G>T

1 paper

NM_016179.4

p.Q258R

c.773A>G

1 paper

NM_016179.4

p.R194C

c.580C>T

4 papers

NM_016179.4

p.S185*

c.554C>A