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

2 papers

NM_000218.3

p.L79R

c.236T>G

Surrounding Variants

1 paper

NM_000218.3

p.L79_G80insFs

c.236_239dup4

1 paper

NM_000218.3

p.L79F

c.235C>T

1 paper

NM_000218.3

p.L79fs

c.235_236fs

1 paper

NM_000218.3

p.D78E

c.234C>A

1 paper

NM_000218.3

p.D78E

c.234C>G

1 paper

NM_000218.3

p.D78D

c.234C>T

3 papers

NM_000218.3

p.G80S

c.238G>A

2 papers

NM_000218.3

p.G80R

c.238G>C

1 paper

NM_000218.3

p.G80C

c.238G>T

2 papers

NM_000218.3

p.D78A

c.233A>C

1 paper

NM_000218.3

p.D78G

c.233A>G

5 papers

NM_000218.3

p.L79delFs

c.235delC