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

8 papers

NM_000218.3

p.R195delFs

c.585delG

Surrounding Variants

7 papers

NM_000218.3

p.R195fs

c.583_584fs

2 papers

NM_000218.3

p.R195G

c.583C>G

13 papers

NM_000218.3

p.R195W

c.583C>T

12 papers

NM_000218.3

p.R195Q

c.584G>A

11 papers

NM_000218.3

p.R195P

c.584G>C

1 paper

NM_000218.3

p.A194D

c.581C>A

1 paper

NM_000218.3

p.A194G

c.581C>G

2 papers

NM_000218.3

p.A194V

c.581C>T

3 papers

NM_000218.3

p.K196Q

c.586A>C

2 papers

NM_000218.3

p.K196fs

c.586_587fs

1 paper

NM_000218.3

p.A194T

c.580G>A

7 papers

NM_000218.3

p.A194P

c.580G>C