Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.P1210R

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
2 papers
NM_017636.4
p.P1210R
c.3629C>G
Surrounding Variants
1 paper
NM_017636.4
p.G1211A
c.3632G>C
1 paper
NM_017636.4
p.P1207fs
c.3619_3620fs
2 papers
NM_017636.4
p.P1206L
c.3617C>T
1 paper
NM_017636.4
p.P1207delFs
c.3620delC
14 papers
NM_017636.4
p.P1204L
c.3611C>T
2 papers
NM_017636.4
p.G1203R
c.3607G>A
2 papers
NM_017636.4
p.G1203R
c.3607G>C
2 papers
NM_017636.4
p.P1201L
c.3602C>T
1 paper
NM_017636.4
p.P1201S
c.3601C>T
1 paper
NM_017636.4
p.L1199P
c.3596T>C
2 papers
NM_017636.4
p.S1196T
c.3586T>A
1 paper
NM_017636.4
p.R1195P
c.3584G>C
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