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.K420N

c.1260A>C

Surrounding Variants

1 paper

NM_000218.3

p.K420N

c.1260A>T

1 paper

NM_000218.3

p.K421fs

c.1261_1262fs

4 papers

NM_000218.3

p.K421E

c.1261A>G

1 paper

NM_000218.3

p.K420R

c.1259A>G

1 paper

NM_000218.3

p.K421*

c.1261A>T

1 paper

NM_000218.3

p.K421fs

c.1261_1262fs

1 paper

NM_000218.3

p.K420fs

c.1258_1259fs

1 paper

NM_000218.3

p.K421N

c.1263A>C

1 paper

NM_000218.3

p.K421N

c.1263A>T

3 papers

NM_000218.3

p.K419N

c.1257G>C

6 papers

NM_000218.3

p.K420insFs

c.1258_1259insA

3 papers

NM_000218.3

p.K419N

c.1257G>T