Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.V624A

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.V624A
c.1871T>C
Surrounding Variants
1 paper
NM_017636.4
p.V624I
c.1870G>A
2 papers
NM_017636.4
p.V624F
c.1870G>T
1 paper
NM_017636.4
p.D625E
c.1875C>A
1 paper
NM_017636.4
p.D625E
c.1875C>G
1 paper
NM_017636.4
p.D625Splc
c.1873+3G>T
2 papers
NM_017636.4
p.G621V
c.1862G>T
1 paper
NM_017636.4
p.F617L
c.1851C>A
1 paper
NM_017636.4
p.F617L
c.1851C>G
1 paper
NM_017636.4
p.F617L
c.1849T>C
1 paper
NM_017636.4
p.D614V
c.1841A>T
2 papers
NM_017636.4
p.D614Y
c.1840G>T
2 papers
NM_017636.4
p.R612K
c.1835G>A
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."