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

89 papers

NM_000218.3

p.R555C

c.1663C>T

Surrounding Variants

6 papers

NM_000218.3

p.R555S

c.1663C>A

1 paper

NM_000218.3

p.R555G

c.1663C>G

36 papers

NM_000218.3

p.R555H

c.1664G>A

1 paper

NM_000218.3

p.R555L

c.1664G>T

4 papers

NM_000218.3

p.V554A

c.1661T>C

1 paper

NM_000218.3

p.V554G

c.1661T>G

1 paper

NM_000218.3

p.R555_Q560del6

c.1663_1679del18

1 paper

NM_000218.3

p.I556_K557insFs

c.1667_1671dup5

2 papers

NM_000218.3

p.V554M

c.1660G>A

1 paper

NM_000218.3

p.V554L

c.1660G>C

1 paper

NM_000218.3

p.V554L

c.1660G>T

1 paper

NM_000218.3

p.V554fs

c.1660_1661fs