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

8 papers

NM_000218.3

p.Y522S

c.1565A>C

Surrounding Variants

1 paper

NM_000218.3

p.Y522C

c.1565A>G

1 paper

NM_000218.3

p.Y522*

c.1566C>A

1 paper

NM_000218.3

p.Y522*

c.1566C>G

1 paper

NM_000218.3

p.Y522del1

c.1564_1565delTAC

1 paper

NM_000218.3

p.M520I

c.1560G>A

1 paper

NM_000218.3

p.M520I

c.1560G>C

1 paper

NM_000218.3

p.V524L

c.1570G>C

1 paper

NM_000218.3

p.M520I

c.1560G>T

1 paper

NM_000218.3

p.V524L

c.1570G>T

1 paper

NM_000218.3

p.M520K

c.1559T>A

1 paper

NM_000218.3

p.M520T

c.1559T>C

1 paper

NM_000218.3

p.V524A

c.1571T>C