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.C331S

c.992G>C

Surrounding Variants

2 papers

NM_000218.3

p.C331Y

c.992G>A

1 paper

NM_000218.3

p.C331*

c.993C>A

1 paper

NM_000218.3

p.C331S

c.991T>A

5 papers

NM_000218.3

p.S333delFs

c.998_999delCT

1 paper

NM_000218.3

p.S330Y

c.989C>A

1 paper

NM_000218.3

p.S330F

c.989C>T

2 papers

NM_000218.3

p.S330A

c.988T>G

1 paper

NM_000218.3

p.S333T

c.997T>A

2 papers

NM_000218.3

p.S333A

c.997T>G

5 papers

NM_000218.3

p.S333fs

c.997_998fs

1 paper

NM_000218.3

p.A329D

c.986C>A

1 paper

NM_000218.3

p.A329G

c.986C>G