Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.Q854R

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
11 papers
NM_017636.4
p.Q854R
c.2561A>G
Surrounding Variants
2 papers
NM_017636.4
p.Q854E
c.2560C>G
2 papers
NM_017636.4
p.R855C
c.2563C>T
2 papers
NM_017636.4
p.R855L
c.2564G>T
1 paper
NM_017636.4
p.Y859_L860del0
c.2575_2580del6
2 papers
NM_017636.4
p.Y859H
c.2575T>C
2 papers
NM_017636.4
p.H849P
c.2546A>C
2 papers
NM_017636.4
p.H849R
c.2546A>G
1 paper
NM_017636.4
p.G848V
c.2543G>T
1 paper
NM_017636.4
p.P847S
c.2539C>T
2 papers
NM_017636.4
p.D862N
c.2584G>A
2 papers
NM_017636.4
p.D862G
c.2585A>G
1 paper
NM_017636.4
p.D862E
c.2586C>A
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