Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.C768F

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.C768F
c.2303G>T
Surrounding Variants
1 paper
NM_017636.4
p.L769V
c.2305C>G
2 papers
NM_017636.4
p.R767Q
c.2300G>A
2 papers
NM_017636.4
p.R770L
c.2309G>T
2 papers
NM_017636.4
p.R766fs
c.2296_2297fs
3 papers
NM_017636.4
p.R766C
c.2296C>T
2 papers
NM_017636.4
p.R771C
c.2311C>T
2 papers
NM_017636.4
p.G765E
c.2294G>A
7 papers
NM_017636.4
p.G765insFs
c.2295dupG
3 papers
NM_017636.4
p.C763W
c.2289C>G
1 paper
NM_017636.4
p.G765del1
c.2293_2294delGGG
3 papers
NM_017636.4
p.F773I
c.2317T>A
1 paper
NM_017636.4
p.F773L
c.2317T>C
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