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.T591T

c.1773C>T

Surrounding Variants

1 paper

NM_004770.3

p.C581Y

c.1742G>A

1 paper

NM_004770.3

p.D604E

c.1812C>A

1 paper

NM_004770.3

p.D604E

c.1812C>G

1 paper

NM_004770.3

p.S619L

c.1856C>T

1 paper

NM_004770.3

p.S627F

c.1880C>T

1 paper

NM_004770.3

p.K632N

c.1896G>C

1 paper

NM_004770.3

p.K632N

c.1896G>T

1 paper

NM_004770.3

p.E546K

c.1636G>A

2 papers

NM_004770.3

p.A646V

c.1937C>T

1 paper

NM_004770.3

p.G648delFs

c.1943delG

1 paper

NM_004770.3

p.R647K

c.1940G>A

1 paper

NM_004770.3

p.G648fs

c.1942_1943fs