Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.Q8L

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.Q8L
c.23A>T
Surrounding Variants
1 paper
NM_017636.4
p.Q8Q
c.24G>A
25 papers
NM_017636.4
p.E7K
c.19G>A
1 paper
NM_017636.4
p.Q8_S9Splc
c.24+5G>A
1 paper
NM_017636.4
p.E5K
c.13G>A
1 paper
NM_017636.4
p.P4P
c.12G>A
1 paper
NM_017636.4
p.E5insFs
c.13dupG
1 paper
NM_017636.4
p.P4R
c.11C>G
1 paper
NM_017636.4
p.P4S
c.10C>T
1 paper
NM_017636.4
p.P4insFs
c.11dupC
1 paper
NM_017636.4
p.V3_P4ins1
c.9_10insGAA
2 papers
NM_017636.4
p.V3A
c.8T>C
1 paper
NM_017636.4
p.V2V
c.6G>A
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