Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.S587T

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.S587T
c.1759T>A
Surrounding Variants
2 papers
NM_017636.4
p.V586L
c.1756G>C
2 papers
NM_017636.4
p.N584S
c.1751A>G
2 papers
NM_017636.4
p.L590P
c.1769T>C
1 paper
NM_017636.4
p.S583Y
c.1748C>A
1 paper
NM_017636.4
p.G591R
c.1771G>A
1 paper
NM_017636.4
p.G591R
c.1771G>C
1 paper
NM_017636.4
p.S583A
c.1747T>G
18 papers
NM_017636.4
p.G582S
c.1744G>A
2 papers
NM_017636.4
p.A592T
c.1774G>A
2 papers
NM_017636.4
p.G582C
c.1744G>T
1 paper
NM_017636.4
p.A592V
c.1775C>T
1 paper
NM_017636.4
p.M581_G582Splc
c.1744-1G>A
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