Varaico: Literature-Extracted Genetic Variants

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

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.T181I

c.542C>T

Surrounding Variants

1 paper

NM_017636.4

p.T181A

c.541A>G

2 papers

NM_017636.4

p.M186V

c.556A>G

1 paper

NM_017636.4

p.A176V

c.527C>T

1 paper

NM_017636.4

p.M175fs

c.523_524fs

1 paper

NM_017636.4

p.Q174insFs

c.521dupA

1 paper

NM_017636.4

p.A189T

c.565G>A

2 papers

NM_017636.4

p.A189V

c.566C>T

2 papers

NM_017636.4

p.R171Q

c.512G>A

1 paper

NM_017636.4

p.G192S

c.574G>A

2 papers

NM_017636.4

p.G192R

c.574G>C

2 papers

NM_017636.4

p.G192D

c.575G>A

1 paper

NM_017636.4

p.V170I

c.508G>A