Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.V912I

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.V912I
c.2734G>A
Surrounding Variants
2 papers
NM_017636.4
p.V912_N913del2
c.2734_2738del6
2 papers
NM_017636.4
p.T911M
c.2732C>T
2 papers
NM_017636.4
p.N913S
c.2738A>G
1 paper
NM_017636.4
p.K914E
c.2740A>G
11 papers
NM_017636.4
p.K914*
c.2740A>T
9 papers
NM_017636.4
p.K914R
c.2741A>G
2 papers
NM_017636.4
p.I909V
c.2725A>G
1 paper
NM_017636.4
p.L907P
c.2720T>C
2 papers
NM_017636.4
p.G917R
c.2749G>A
2 papers
NM_017636.4
p.G917R
c.2749G>C
1 paper
NM_017636.4
p.L906P
c.2717T>C
2 papers
NM_017636.4
p.R905Q
c.2714G>A
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