Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.L596P

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
4 papers
NM_017636.4
p.L596P
c.1787T>C
Surrounding Variants
3 papers
NM_017636.4
p.R597W
c.1789C>T
1 paper
NM_017636.4
p.R597Q
c.1790G>A
4 papers
NM_017636.4
p.L595V
c.1783C>G
2 papers
NM_017636.4
p.M599V
c.1795A>G
1 paper
NM_017636.4
p.A592V
c.1775C>T
2 papers
NM_017636.4
p.A592T
c.1774G>A
2 papers
NM_017636.4
p.R601L
c.1802G>T
1 paper
NM_017636.4
p.G591R
c.1771G>A
1 paper
NM_017636.4
p.G591R
c.1771G>C
2 papers
NM_017636.4
p.L590P
c.1769T>C
1 paper
NM_017636.4
p.E603*
c.1807G>T
1 paper
NM_017636.4
p.E603D
c.1809G>C
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