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

3 papers

NM_000218.3

p.R259P

c.776G>C

Surrounding Variants

31 papers

NM_000218.3

p.R259H

c.776G>A

22 papers

NM_000218.3

p.R259L

c.776G>T

1 paper

NM_000218.3

p.R259_Q260delins

c.777_778delinsCC

6 papers

NM_000218.3

p.R259G

c.775C>G

33 papers

NM_000218.3

p.R259C

c.775C>T

1 paper

NM_000218.3

p.Q260K

c.778C>A

1 paper

NM_000218.3

p.Q260*

c.778C>T

11 papers

NM_000218.3

p.H258P

c.773A>C

16 papers

NM_000218.3

p.H258R

c.773A>G

1 paper

NM_000218.3

p.H258L

c.773A>T

4 papers

NM_000218.3

p.H258N

c.772C>A

2 papers

NM_000218.3

p.Q260H

c.780G>C