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.Q147L

c.440A>T

Surrounding Variants

31 papers

NM_000218.3

p.Q147R

c.440A>G

1 paper

NM_000218.3

p.E146D

c.438G>C

1 paper

NM_000218.3

p.E146D

c.438G>T

1 paper

NM_000218.3

p.Y148N

c.442T>A

3 papers

NM_000218.3

p.Y148delFs

c.443delA

3 papers

NM_000218.3

p.Y148fs

c.442_443fs

1 paper

NM_000218.3

p.Y148S

c.443A>C

8 papers

NM_000218.3

p.E146G

c.437A>G

3 papers

NM_000218.3

p.Y148C

c.443A>G

16 papers

NM_000218.3

p.E146K

c.436G>A

1 paper

NM_000218.3

p.E146Q

c.436G>C

1 paper

NM_000218.3

p.E146*

c.436G>T