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.R1067L

c.3200G>T

Surrounding Variants

1 paper

NM_017636.4

p.R1067Q

c.3200G>A

3 papers

NM_017636.4

p.E1068Q

c.3202G>C

1 paper

NM_017636.4

p.E1068*

c.3202G>T

1 paper

NM_017636.4

p.L1065_I1066insTC

c.3193_3197ins6

2 papers

NM_017636.4

p.H1070L

c.3209A>T

2 papers

NM_017636.4

p.R1064H

c.3191G>A

2 papers

NM_017636.4

p.R1064S

c.3190C>A

3 papers

NM_017636.4

p.R1064G

c.3190C>G

3 papers

NM_017636.4

p.R1072W

c.3214C>T

4 papers

NM_017636.4

p.R1072Q

c.3215G>A

2 papers

NM_017636.4

p.R1062S

c.3184C>A

2 papers

NM_017636.4

p.R1062G

c.3184C>G