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.Y424Y

c.1272C>T

Surrounding Variants

1 paper

NM_004770.3

p.S421del1

c.1261_1262delTCT

1 paper

NM_004770.3

p.P414L

c.1241C>T

1 paper

NM_004770.3

p.L440P

c.1319T>C

1 paper

NM_004770.3

p.C402Y

c.1205G>A

1 paper

NM_004770.3

p.G447R

c.1339G>A

1 paper

NM_004770.3

p.G447R

c.1339G>C

1 paper

NM_004770.3

p.S448C

c.1342A>T

1 paper

NM_004770.3

p.S448R

c.1344C>A

2 papers

NM_004770.3

p.V450I

c.1348G>A

1 paper

NM_004770.3

p.M452I

c.1356G>A

1 paper

NM_004770.3

p.M452I

c.1356G>C

1 paper

NM_004770.3

p.M452I

c.1356G>T