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.L191R

c.572T>G

Surrounding Variants

17 papers

NM_000218.3

p.L191P

c.572T>C

19 papers

NM_000218.3

p.L191fs

c.571_572fs

2 papers

NM_000218.3

p.L191V

c.571C>G

1 paper

NM_000218.3

p.L191_R192delFs

c.572_575del4

2 papers

NM_000218.3

p.R192S

c.574C>A

3 papers

NM_000218.3

p.R192fs

c.574_575fs

1 paper

NM_000218.3

p.R192G

c.574C>G

14 papers

NM_000218.3

p.R192C

c.574C>T

11 papers

NM_000218.3

p.R192fs

c.574_575fs

127 papers

NM_000218.3

p.R190Q

c.569G>A

10 papers

NM_000218.3

p.R192H

c.575G>A

7 papers

NM_000218.3

p.R192P

c.575G>C