Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000218.3

p.S95R

c.283A>C

Surrounding Variants

2 papers

NM_000218.3

p.S95insFs

c.283_284insG

3 papers

NM_000218.3

p.S95insFs

c.283_284insGT

1 paper

NM_000218.3

p.S95fs

c.283_284fs

2 papers

NM_000218.3

p.S95G

c.283A>G

6 papers

NM_000218.3

p.S95C

c.283A>T

1 paper

NM_000218.3

p.Y94*

c.282C>A

2 papers

NM_000218.3

p.Y94_S95insFs

c.282_283insG

1 paper

NM_000218.3

p.Y94*

c.282C>G

3 papers

NM_000218.3

p.Y94C

c.281A>G

1 paper

NM_000218.3

p.Y94F

c.281A>T

1 paper

NM_000218.3

p.S95_R98del0

c.283_294del12

2 papers

NM_000218.3

p.S95R

c.285C>A