Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.L824V

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
1 paper
NM_017636.4
p.L824V
c.2470C>G
Surrounding Variants
1 paper
NM_017636.4
p.T823M
c.2468C>T
2 papers
NM_017636.4
p.L825P
c.2474T>C
2 papers
NM_017636.4
p.E827K
c.2479G>A
1 paper
NM_017636.4
p.E827*
c.2479G>T
1 paper
NM_017636.4
p.E828K
c.2482G>A
1 paper
NM_017636.4
p.L829R
c.2486T>G
2 papers
NM_017636.4
p.Y818C
c.2453A>G
2 papers
NM_017636.4
p.Y818F
c.2453A>T
1 paper
NM_017636.4
p.R830C
c.2488C>T
1 paper
NM_017636.4
p.R830L
c.2489G>T
1 paper
NM_017636.4
p.R830_Q831insFs
c.2490_2491insT
2 papers
NM_017636.4
p.L816M
c.2446C>A
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