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.V503A

c.1508T>C

Surrounding Variants

1 paper

NM_017636.4

p.G504delFs

c.1512delG

2 papers

NM_017636.4

p.V503L

c.1507G>C

1 paper

NM_017636.4

p.V503fs

c.1507_1508fs

2 papers

NM_017636.4

p.V503L

c.1507G>T

1 paper

NM_017636.4

p.H505fs

c.1513_1514fs

2 papers

NM_017636.4

p.H505R

c.1514A>G

1 paper

NM_017636.4

p.P500_D502insFs

c.1499_1506dup8

1 paper

NM_017636.4

p.R499Q

c.1496G>A

2 papers

NM_017636.4

p.R499P

c.1496G>C

4 papers

NM_017636.4

p.R499W

c.1495C>T

1 paper

NM_017636.4

p.L498L

c.1494C>G

2 papers

NM_017636.4

p.L498I

c.1492C>A