Varaico: Literature-Extracted Genetic Variants

KCNMB4

24 papers

RefSeq Summary

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be forme...

Pfam Domains

CaKBaa 8–203UCSCCalcium-activated potassium channel, beta subunit

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily M regulatory beta subunit 4

HGNC Previous Names

potassium large conductance calcium-activated channel, subfamily M, beta member 4; potassium channel subfamily M regulatory beta subunit 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014505.6

p.N123K

c.369T>A

Surrounding Variants

1 paper

NM_014505.6

p.N123K

c.369T>G

1 paper

NM_014505.6

p.N123I

c.368A>T

1 paper

NM_014505.6

p.N123D

c.367A>G

1 paper

NM_014505.6

p.N123Y

c.367A>T

1 paper

NM_014505.6

p.Q135R

c.404A>G

1 paper

NM_014505.6

p.R155Splc

c.464+4239A>T