Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.N470K

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.N470K
c.1410C>G
Surrounding Variants
1 paper
NM_017636.4
p.N470K
c.1410C>A
2 papers
NM_017636.4
p.N470S
c.1409A>G
1 paper
NM_017636.4
p.N470Y
c.1408A>T
2 papers
NM_017636.4
p.S471L
c.1412C>T
2 papers
NM_017636.4
p.A467G
c.1400C>G
1 paper
NM_017636.4
p.A467V
c.1400C>T
2 papers
NM_017636.4
p.R474H
c.1421G>A
1 paper
NM_017636.4
p.A467T
c.1399G>A
2 papers
NM_017636.4
p.A466V
c.1397C>T
1 paper
NM_017636.4
p.N475S
c.1424A>G
2 papers
NM_017636.4
p.S465R
c.1395C>A
2 papers
NM_017636.4
p.S465R
c.1395C>G
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