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.G252A

c.755G>C

Surrounding Variants

1 paper

NM_000218.3

p.G252D

c.755G>A

1 paper

NM_000218.3

p.G252S

c.754G>A

1 paper

NM_000218.3

p.G252R

c.754G>C

5 papers

NM_000218.3

p.S253A

c.757T>G

2 papers

NM_000218.3

p.S253delins

c.757_758delinsAA

8 papers

NM_000218.3

p.S253C

c.758C>G

1 paper

NM_000218.3

p.S253F

c.758C>T

2 papers

NM_000218.3

p.L251Q

c.752T>A

10 papers

NM_000218.3

p.L251P

c.752T>C

1 paper

NM_000218.3

p.L251L

c.751C>T

84 papers

NM_000218.3

p.V254M

c.760G>A

16 papers

NM_000218.3

p.V254L

c.760G>C