Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.G844D

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
23 papers
NM_017636.4
p.G844D
c.2531G>A
Surrounding Variants
1 paper
NM_017636.4
p.G844R
c.2530G>C
1 paper
NM_017636.4
p.G844fs
c.2530_2531fs
1 paper
NM_017636.4
p.P845A
c.2533C>G
1 paper
NM_017636.4
p.P845S
c.2533C>T
1 paper
NM_017636.4
p.G843G
c.2529G>C
1 paper
NM_017636.4
p.G844delFs
c.2531delG
2 papers
NM_017636.4
p.G846W
c.2536G>T
1 paper
NM_017636.4
p.P847S
c.2539C>T
1 paper
NM_017636.4
p.G848V
c.2543G>T
2 papers
NM_017636.4
p.H849P
c.2546A>C
2 papers
NM_017636.4
p.H849R
c.2546A>G
1 paper
NM_017636.4
p.S839N
c.2516G>A
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