Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.V441V

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.V441V
c.1323G>T
Surrounding Variants
2 papers
NM_017636.4
p.R442C
c.1324C>T
4 papers
NM_017636.4
p.V441M
c.1321G>A
2 papers
NM_017636.4
p.R442H
c.1325G>A
1 paper
NM_017636.4
p.P438fs
c.1312_1313fs
2 papers
NM_017636.4
p.I445M
c.1335T>G
1 paper
NM_017636.4
p.R437insFs
c.1311dupG
3 papers
NM_017636.4
p.R437W
c.1309C>T
2 papers
NM_017636.4
p.D436E
c.1308C>A
2 papers
NM_017636.4
p.D436E
c.1308C>G
1 paper
NM_017636.4
p.A432D
c.1295C>A
1 paper
NM_017636.4
p.A432G
c.1295C>G
1 paper
NM_017636.4
p.A432V
c.1295C>T
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