Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.L1075P

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
11 papers
NM_017636.4
p.L1075P
c.3224T>C
Surrounding Variants
2 papers
NM_017636.4
p.L1075R
c.3224T>G
1 paper
NM_017636.4
p.A1076delFs
c.3226delG
3 papers
NM_017636.4
p.A1076T
c.3226G>A
1 paper
NM_017636.4
p.A1076fs
c.3226_3227fs
2 papers
NM_017636.4
p.A1074V
c.3221C>T
1 paper
NM_017636.4
p.P1073T
c.3217C>A
4 papers
NM_017636.4
p.R1072Q
c.3215G>A
3 papers
NM_017636.4
p.R1072W
c.3214C>T
2 papers
NM_017636.4
p.F1079delFs
c.3237delT
1 paper
NM_017636.4
p.F1079fs
c.3235_3236fs
2 papers
NM_017636.4
p.H1070L
c.3209A>T
1 paper
NM_017636.4
p.I1080S
c.3239T>G
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