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

2 papers

NM_000218.3

p.I375F

c.1123A>T

Surrounding Variants

1 paper

NM_000218.3

p.I375V

c.1123A>G

4 papers

NM_000218.3

p.I375fs

c.1123_1124fs

1 paper

NM_000218.3

p.I375_Q376delFs

c.1125_1128del4

10 papers

NM_000218.3

p.L374H

c.1121T>A

2 papers

NM_000218.3

p.L374fs

c.1120_1121fs

1 paper

NM_000218.3

p.L374V

c.1120C>G

1 paper

NM_000218.3

p.Q376E

c.1126C>G

2 papers

NM_000218.3

p.L374F

c.1120C>T

2 papers

NM_000218.3

p.Q376*

c.1126C>T

1 paper

NM_000218.3

p.Q376fs

c.1126_1127fs

3 papers

NM_000218.3

p.I375_Q376delFs

c.1124_1127del4

1 paper

NM_000218.3

p.Q376P

c.1127A>C