Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.Y818C

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.Y818C
c.2453A>G
Surrounding Variants
2 papers
NM_017636.4
p.Y818F
c.2453A>T
2 papers
NM_017636.4
p.L816M
c.2446C>A
2 papers
NM_017636.4
p.L815Q
c.2444T>A
1 paper
NM_017636.4
p.T823M
c.2468C>T
1 paper
NM_017636.4
p.L813P
c.2438T>C
1 paper
NM_017636.4
p.L813R
c.2438T>G
1 paper
NM_017636.4
p.L824V
c.2470C>G
2 papers
NM_017636.4
p.S812F
c.2435C>T
2 papers
NM_017636.4
p.G811A
c.2432G>C
2 papers
NM_017636.4
p.L825P
c.2474T>C
1 paper
NM_017636.4
p.G811S
c.2431G>A
2 papers
NM_017636.4
p.P810S
c.2428C>T
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