Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.H774P

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.H774P
c.2321A>C
Surrounding Variants
1 paper
NM_017636.4
p.F773L
c.2319C>A
1 paper
NM_017636.4
p.F773L
c.2319C>G
3 papers
NM_017636.4
p.F773I
c.2317T>A
1 paper
NM_017636.4
p.F773L
c.2317T>C
2 papers
NM_017636.4
p.G777D
c.2330G>A
2 papers
NM_017636.4
p.R771C
c.2311C>T
2 papers
NM_017636.4
p.A778S
c.2332G>T
2 papers
NM_017636.4
p.A778V
c.2333C>T
2 papers
NM_017636.4
p.R770L
c.2309G>T
2 papers
NM_017636.4
p.P779T
c.2335C>A
10 papers
NM_017636.4
p.P779R
c.2336C>G
1 paper
NM_017636.4
p.L769V
c.2305C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."