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.A516P

c.1546G>C

Surrounding Variants

2 papers

NM_017636.4

p.A516V

c.1547C>T

1 paper

NM_017636.4

p.P517L

c.1550C>T

2 papers

NM_017636.4

p.M514T

c.1541T>C

1 paper

NM_017636.4

p.R518_Y519ins0

c.1553_1555dupGGT

1 paper

NM_017636.4

p.R518K

c.1553G>A

1 paper

NM_017636.4

p.P520delFs

c.1559_1560delCC

1 paper

NM_017636.4

p.G512V

c.1535G>T

1 paper

NM_017636.4

p.P520fs

c.1558_1559fs

1 paper

NM_017636.4

p.P520R

c.1559C>G

3 papers

NM_017636.4

p.L511Q

c.1532T>A

1 paper

NM_017636.4

p.S521A

c.1561T>G

1 paper

NM_017636.4

p.G522R

c.1564G>A