Varaico: Literature-Extracted Genetic Variants

KCNMB2

71 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

KcnmB2_inactivaa 1–32UCSCKCNMB2, ball and chain domain

CaKBaa 38–229UCSCCalcium-activated potassium channel, beta subunit

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily M regulatory beta subunit 2

HGNC Previous Names

potassium large conductance calcium-activated channel, subfamily M, beta member 2; potassium channel subfamily M regulatory beta subunit 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181361.3

p.I48M

c.144T>G

Surrounding Variants

3 papers

NM_181361.3

p.M55V

c.163A>G

1 paper

NM_181361.3

p.M60V

c.178A>G

2 papers

NM_181361.3

p.M61L

c.181A>T

2 papers

NM_181361.3

p.Y62D

c.184T>G

1 paper

NM_181361.3

p.I67M

c.201C>G

1 paper

NM_181361.3

p.T68I

c.203C>T

1 paper

NM_181361.3

p.S76Splc

c.228-300G>A

1 paper

NM_181361.3

p.S100G

c.298A>G

1 paper

NM_181361.3

p.L114P

c.341T>C

2 papers

NM_181361.3

p.G124R

c.370G>A

2 papers

NM_181361.3

p.G124R

c.370G>C