Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4

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
1–12 of 1108 variants
28 papers
NM_017636.4
p.A432T
c.1294G>A
25 papers
NM_017636.4
p.E7K
c.19G>A
23 papers
NM_017636.4
p.G844D
c.2531G>A
18 papers
NM_017636.4
p.G582S
c.1744G>A
14 papers
NM_017636.4
p.P1204L
c.3611C>T
13 papers
NM_017636.4
p.W525*
c.1574G>A
13 papers
NM_017636.4
p.W525*
c.1575G>A
12 papers
NM_017636.4
p.R164W
c.490C>T
11 papers
NM_017636.4
p.Q854R
c.2561A>G
11 papers
NM_017636.4
p.K914*
c.2740A>T
11 papers
NM_017636.4
p.L1075P
c.3224T>C
10 papers
NM_017636.4
p.P779R
c.2336C>G
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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."