Varaico: Literature-Extracted Genetic Variants

KCNB2

108 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

BTB_2aa 37–136UCSCBTB/POZ domain

Ion_transaa 192–428UCSCIon transport protein

Kv2channelaa 471–759UCSCKv2 voltage-gated K+ channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily B member 2

HGNC Alias Symbol

Kv2.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004770.3

p.L100I

c.298T>A

Surrounding Variants

1 paper

NM_004770.3

p.G94E

c.281G>A

1 paper

NM_004770.3

p.P93T

c.277C>A

1 paper

NM_004770.3

p.E86K

c.256G>A

1 paper

NM_004770.3

p.E84V

c.251A>T

1 paper

NM_004770.3

p.S118L

c.353C>T

1 paper

NM_004770.3

p.N81I

c.242A>T

1 paper

NM_004770.3

p.E122K

c.364G>A

1 paper

NM_004770.3

p.Y125*

c.375C>A

1 paper

NM_004770.3

p.Y125*

c.375C>G

1 paper

NM_004770.3

p.Y132*

c.396C>A

1 paper

NM_004770.3

p.Y132*

c.396C>G

1 paper

NM_004770.3

p.E134K

c.400G>A