Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.A1192V

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.A1192V
c.3575C>T
Surrounding Variants
2 papers
NM_017636.4
p.A1192S
c.3574G>T
2 papers
NM_017636.4
p.L1193P
c.3578T>C
3 papers
NM_017636.4
p.R1195_G1202del8
c.3583_3605del24
2 papers
NM_017636.4
p.A1190T
c.3568G>A
1 paper
NM_017636.4
p.R1195P
c.3584G>C
2 papers
NM_017636.4
p.S1196T
c.3586T>A
2 papers
NM_017636.4
p.W1188L
c.3563G>T
1 paper
NM_017636.4
p.W1188fs
c.3562_3563fs
1 paper
NM_017636.4
p.W1188insFs
c.3562dupT
2 papers
NM_017636.4
p.G1187R
c.3559G>A
2 papers
NM_017636.4
p.G1187R
c.3559G>C
2 papers
NM_017636.4
p.L1186Q
c.3557T>A
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