Varaico: Literature-Extracted Genetic Variants

KCNB1

407 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 33–132UCSCBTB/POZ domain

Ion_transaa 188–424UCSCIon transport protein

Kv2channelaa 467–619UCSCKv2 voltage-gated K+ channel

Kv2channelaa 637–685UCSCKv2 voltage-gated K+ channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily B member 1

HGNC Alias Symbol

Kv2.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004975.4

p.A731P

c.2191G>C

Surrounding Variants

1 paper

NM_004975.4

p.P734insFs

c.2200_2201insA

1 paper

NM_004975.4

p.P734fs

c.2200_2201fs

1 paper

NM_004975.4

p.P734R

c.2201C>G

1 paper

NM_004975.4

p.R736fs

c.2206_2207fs

3 papers

NM_004975.4

p.R736delFs

c.2206delG

2 papers

NM_004975.4

p.R736fs

c.2206_2207fs

1 paper

NM_004975.4

p.P738S

c.2212C>T

1 paper

NM_004975.4

p.V718_E722del5

c.2152_2165del15

1 paper

NM_004975.4

p.V718_E722del0

c.2153_2164del12

1 paper

NM_004975.4

p.S720S

c.2160C>T

1 paper

NM_004975.4

p.A745V

c.2234C>T

1 paper

NM_004975.4

p.D715H

c.2143G>C