Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.R164Q

TRPM4

286 papers

RefSeq Summary

The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the ...

Pfam Domains

LSDAT_eukaa 88–351UCSCSLOG in TRPM
LSDAT_eukaa 88–351UCSCSLOG in TRPM
TRPM2aa 412–669UCSCTRPM2-like domain
TRPM2aa 412–669UCSCTRPM2-like domain
Ion_transaa 786–1055UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 4

HGNC Alias Symbol

FLJ20041

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017636.4
p.R164Q
c.491G>A
Surrounding Variants
12 papers
NM_017636.4
p.R164W
c.490C>T
2 papers
NM_017636.4
p.G163S
c.487G>A
2 papers
NM_017636.4
p.H165Q
c.495T>A
2 papers
NM_017636.4
p.H165Q
c.495T>G
3 papers
NM_017636.4
p.I162V
c.484A>G
1 paper
NM_017636.4
p.G161S
c.481G>A
2 papers
NM_017636.4
p.T160R
c.479C>G
7 papers
NM_017636.4
p.T160M
c.479C>T
1 paper
NM_017636.4
p.V168E
c.503T>A
1 paper
NM_017636.4
p.H159Q
c.477C>A
1 paper
NM_017636.4
p.H159Q
c.477C>G
2 papers
NM_017636.4
p.A169T
c.505G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."