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

1–12 of 2926 variants

220 papers

NM_000218.3

p.A341V

c.1022C>T

127 papers

NM_000218.3

p.R190Q

c.569G>A

127 papers

NM_000218.3

p.G589D

c.1766G>A

124 papers

NM_000218.3

p.S140G

c.418A>G

124 papers

NM_000218.3

p.R518*

c.1552C>T

89 papers

NM_000218.3

p.R555C

c.1663C>T

87 papers

NM_000218.3

p.V141M

c.421G>A

84 papers

NM_000218.3

p.V254M

c.760G>A

82 papers

NM_000218.3

p.R594Q

c.1781G>A

80 papers

NM_000218.3

p.G314S

c.940G>A

79 papers

NM_000218.3

p.Y111C

c.332A>G

78 papers

NM_000218.3

p.G269S

c.805G>A