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.V524A

c.1571T>C

Surrounding Variants

21 papers

NM_000218.3

p.V524G

c.1571T>G

1 paper

NM_000218.3

p.V524L

c.1570G>C

1 paper

NM_000218.3

p.V524L

c.1570G>T

25 papers

NM_000218.3

p.A525T

c.1573G>A

1 paper

NM_000218.3

p.A525P

c.1573G>C

1 paper

NM_000218.3

p.A525S

c.1573G>T

1 paper

NM_000218.3

p.A525D

c.1574C>A

1 paper

NM_000218.3

p.A525G

c.1574C>G

5 papers

NM_000218.3

p.A525V

c.1574C>T

5 papers

NM_000218.3

p.K526Q

c.1576A>C

11 papers

NM_000218.3

p.K526E

c.1576A>G

1 paper

NM_000218.3

p.Y522*

c.1566C>A