Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.S536_M537Splc

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.S536_M537Splc
c.1608+4A>G
Surrounding Variants
1 paper
NM_017636.4
p.S536_M537Splc
c.1608+1G>C
1 paper
NM_017636.4
p.S536R
c.1608C>A
1 paper
NM_017636.4
p.S536R
c.1608C>G
1 paper
NM_017636.4
p.S536R
c.1606A>C
3 papers
NM_017636.4
p.E535K
c.1603G>A
1 paper
NM_017636.4
p.E535*
c.1603G>T
2 papers
NM_017636.4
p.G534R
c.1600G>A
2 papers
NM_017636.4
p.G534R
c.1600G>C
1 paper
NM_017636.4
p.F533L
c.1599C>A
1 paper
NM_017636.4
p.F533L
c.1599C>G
1 paper
NM_017636.4
p.F533L
c.1597T>C
1 paper
NM_017636.4
p.F533V
c.1597T>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."