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

5 papers

NM_000218.3

p.S333fs

c.997_998fs

Surrounding Variants

1 paper

NM_000218.3

p.S333T

c.997T>A

2 papers

NM_000218.3

p.S333A

c.997T>G

1 paper

NM_000218.3

p.S333C

c.998C>G

1 paper

NM_000218.3

p.S333F

c.998C>T

1 paper

NM_000218.3

p.V334I

c.1000G>A

2 papers

NM_000218.3

p.V334L

c.1000G>C

1 paper

NM_000218.3

p.V334F

c.1000G>T

5 papers

NM_000218.3

p.S333delFs

c.998_999delCT

1 paper

NM_000218.3

p.C331*

c.993C>A

4 papers

NM_000218.3

p.V334A

c.1001T>C

1 paper

NM_000218.3

p.F335delFs

c.1004_1005delTT

2 papers

NM_000218.3

p.C331Y

c.992G>A