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

1 paper

NM_000218.3

p.T322T

c.966G>C

Surrounding Variants

2 papers

NM_000218.3

p.T322K

c.965C>A

3 papers

NM_000218.3

p.T322R

c.965C>G

35 papers

NM_000218.3

p.T322M

c.965C>T

2 papers

NM_000218.3

p.T322P

c.964A>C

20 papers

NM_000218.3

p.T322A

c.964A>G

6 papers

NM_000218.3

p.W323*

c.968G>A

3 papers

NM_000218.3

p.W323L

c.968G>T

7 papers

NM_000218.3

p.W323*

c.969G>A

2 papers

NM_000218.3

p.W323C

c.969G>C

2 papers

NM_000218.3

p.W323C

c.969G>T

1 paper

NM_000218.3

p.Q321P

c.962A>C

1 paper

NM_000218.3

p.V324I

c.970G>A