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.A201V

c.602C>T

Surrounding Variants

1 paper

NM_014505.6

p.K206R

c.617A>G

2 papers

NM_014505.6

p.V185I

c.553G>A

1 paper

NM_014505.6

p.D166E

c.498T>A

1 paper

NM_014505.6

p.D166E

c.498T>G

1 paper

NM_014505.6

p.R163H

c.488G>A

1 paper

NM_014505.6

p.D158A

c.473A>C