Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.M900I

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.M900I
c.2700G>A
Surrounding Variants
2 papers
NM_017636.4
p.M900I
c.2700G>C
2 papers
NM_017636.4
p.M900I
c.2700G>T
1 paper
NM_017636.4
p.V901A
c.2702T>C
3 papers
NM_017636.4
p.F902L
c.2704T>C
1 paper
NM_017636.4
p.F899_M900ins0
c.2697_2699dupCAT
3 papers
NM_017636.4
p.F902L
c.2706C>A
3 papers
NM_017636.4
p.F902L
c.2706C>G
3 papers
NM_017636.4
p.T903M
c.2708C>T
1 paper
NM_017636.4
p.T903T
c.2709G>A
1 paper
NM_017636.4
p.V904L
c.2710G>C
1 paper
NM_017636.4
p.V904L
c.2710G>T
2 papers
NM_017636.4
p.I897V
c.2689A>G
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