Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.G838V

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
3 papers
NM_017636.4
p.G838V
c.2513G>T
Surrounding Variants
2 papers
NM_017636.4
p.G838D
c.2513G>A
1 paper
NM_017636.4
p.G838G
c.2514C>T
1 paper
NM_017636.4
p.S839fs
c.2515_2516fs
2 papers
NM_017636.4
p.G837E
c.2510G>A
1 paper
NM_017636.4
p.S839N
c.2516G>A
1 paper
NM_017636.4
p.G838insFs
c.2513dupG
1 paper
NM_017636.4
p.G836G
c.2508C>T
1 paper
NM_017636.4
p.G844delFs
c.2531delG
2 papers
NM_017636.4
p.L833V
c.2497C>G
1 paper
NM_017636.4
p.G843G
c.2529G>C
1 paper
NM_017636.4
p.G844R
c.2530G>C
1 paper
NM_017636.4
p.G844fs
c.2530_2531fs
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