Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.G757D

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.G757D
c.2270G>A
Surrounding Variants
2 papers
NM_017636.4
p.G761_G765del0
c.2283_2294del12
2 papers
NM_017636.4
p.P756Q
c.2267C>A
2 papers
NM_017636.4
p.C758W
c.2274C>G
2 papers
NM_017636.4
p.C759G
c.2275T>G
1 paper
NM_017636.4
p.R755L
c.2264G>T
1 paper
NM_017636.4
p.R755C
c.2263C>T
2 papers
NM_017636.4
p.G760R
c.2278G>A
2 papers
NM_017636.4
p.G760R
c.2278G>C
1 paper
NM_017636.4
p.G754R
c.2260G>C
1 paper
NM_017636.4
p.G761R
c.2281G>C
2 papers
NM_017636.4
p.R762P
c.2285G>C
2 papers
NM_017636.4
p.Q752*
c.2254C>T
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."