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.K419N

c.1257G>T

Surrounding Variants

3 papers

NM_000218.3

p.K419N

c.1257G>C

6 papers

NM_000218.3

p.K420insFs

c.1258_1259insA

8 papers

NM_000218.3

p.K422delFs

c.1265delA

1 paper

NM_000218.3

p.K421_K422delFs

c.1262_1265del4

1 paper

NM_000218.3

p.K420fs

c.1258_1259fs

1 paper

NM_000218.3

p.K419T

c.1256A>C

1 paper

NM_000218.3

p.K419R

c.1256A>G

1 paper

NM_000218.3

p.K419E

c.1255A>G

1 paper

NM_000218.3

p.K420R

c.1259A>G

1 paper

NM_000218.3

p.K420N

c.1260A>C

1 paper

NM_000218.3

p.K420N

c.1260A>T

1 paper

NM_000218.3

p.K421fs

c.1261_1262fs