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

2 papers

NM_000218.3

p.A71T

c.211G>A

Surrounding Variants

1 paper

NM_000218.3

p.A71P

c.211G>C

1 paper

NM_000218.3

p.P70P

c.210C>G

2 papers

NM_000218.3

p.P70L

c.209C>T

3 papers

NM_000218.3

p.P70T

c.208C>A

1 paper

NM_000218.3

p.A72T

c.214G>A

2 papers

NM_000218.3

p.A72P

c.214G>C

1 paper

NM_000218.3

p.A72S

c.214G>T

1 paper

NM_000218.3

p.A72E

c.215C>A

1 paper

NM_000218.3

p.A69A

c.207G>C

1 paper

NM_000218.3

p.A69A

c.207G>T

1 paper

NM_000218.3

p.P70delFs

c.210delC

1 paper

NM_000218.3

p.A69E

c.206C>A