Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.R799P

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.R799P
c.2396G>C
Surrounding Variants
1 paper
NM_017636.4
p.S798L
c.2393C>T
3 papers
NM_017636.4
p.L802F
c.2404C>T
1 paper
NM_017636.4
p.D804N
c.2410G>A
1 paper
NM_017636.4
p.L794L
c.2380C>T
1 paper
NM_017636.4
p.F793C
c.2378T>G
2 papers
NM_017636.4
p.L792Q
c.2375T>A
2 papers
NM_017636.4
p.L792V
c.2374C>G
1 paper
NM_017636.4
p.P807Q
c.2420C>A
2 papers
NM_017636.4
p.P807L
c.2420C>T
2 papers
NM_017636.4
p.Y790C
c.2369A>G
6 papers
NM_017636.4
p.Y790H
c.2368T>C
1 paper
NM_017636.4
p.P809S
c.2425C>T
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