Varaico: Literature-Extracted Genetic Variants

Gene:TRPC4
Variant:p.F848V

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.F848V
c.2542T>G
Surrounding Variants
1 paper
NM_016179.4
p.D841A
c.2522A>C
1 paper
NM_016179.4
p.D841Y
c.2521G>T
1 paper
NM_016179.4
p.R834T
c.2501G>C
1 paper
NM_016179.4
p.R889Q
c.2666G>A
2 papers
NM_016179.4
p.R894Q
c.2681G>A
1 paper
NM_016179.4
p.G785C
c.2353G>T
1 paper
NM_016179.4
p.K758Q
c.2272A>C
1 paper
NM_016179.4
p.L753S
c.2258T>C
1 paper
NM_016179.4
p.H949R
c.2846A>G
1 paper
NM_016179.4
p.S956I
c.2867G>T
3 papers
NM_016179.4
p.I957V
c.2869A>G
2 papers
NM_016179.4
p.Y959F
c.2876A>T
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