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.E543K

c.1627G>A

Surrounding Variants

4 papers

NM_000218.3

p.E543fs

c.1627_1628fs

1 paper

NM_000218.3

p.Q544K

c.1630C>A

2 papers

NM_000218.3

p.Q544*

c.1630C>T

1 paper

NM_000218.3

p.Q544delFs

c.1631_1632delAG

1 paper

NM_000218.3

p.Q544fs

c.1630_1631fs

3 papers

NM_000218.3

p.Q544_S546Fs

c.1630_1636delinsGTTGAGATFs

1 paper

NM_000218.3

p.Q544L

c.1631A>T

1 paper

NM_000218.3

p.Q544H

c.1632G>C

1 paper

NM_000218.3

p.Q544H

c.1632G>T

5 papers

NM_000218.3

p.V541I

c.1621G>A

NM_181798.2

p.V414I

c.1240G>A

1 paper

NM_000218.3

p.Y545C

c.1634A>G

2 papers

NM_000218.3

p.Y545F

c.1634A>T