Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.M509T

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.M509T
c.1526T>C
Surrounding Variants
3 papers
NM_017636.4
p.L511Q
c.1532T>A
1 paper
NM_017636.4
p.G512V
c.1535G>T
2 papers
NM_017636.4
p.H505R
c.1514A>G
1 paper
NM_017636.4
p.H505fs
c.1513_1514fs
2 papers
NM_017636.4
p.M514T
c.1541T>C
2 papers
NM_017636.4
p.V503A
c.1508T>C
1 paper
NM_017636.4
p.G504delFs
c.1512delG
2 papers
NM_017636.4
p.V503L
c.1507G>C
1 paper
NM_017636.4
p.V503fs
c.1507_1508fs
2 papers
NM_017636.4
p.V503L
c.1507G>T
2 papers
NM_017636.4
p.A516P
c.1546G>C
2 papers
NM_017636.4
p.A516V
c.1547C>T
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