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.P631H

c.1892C>A

Surrounding Variants

3 papers

NM_000218.3

p.P631R

c.1892C>G

2 papers

NM_000218.3

p.P631L

c.1892C>T

12 papers

NM_000218.3

p.P631fs

c.1891_1892fs

2 papers

NM_000218.3

p.P631A

c.1891C>G

2 papers

NM_000218.3

p.P631fs

c.1891_1892fs

3 papers

NM_000218.3

p.R632fs

c.1894_1895fs

8 papers

NM_000218.3

p.R632fs

c.1894_1895fs

1 paper

NM_000218.3

p.P631_H637delFs

c.1892_1911del20

1 paper

NM_000218.3

p.P630L

c.1889C>T

2 papers

NM_000218.3

p.R632K

c.1895G>A

1 paper

NM_000218.3

p.R632S

c.1896A>C

1 paper

NM_000218.3

p.R632S

c.1896A>T