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

40 papers

NM_000218.3

p.A344A

c.1032G>A

Surrounding Variants

8 papers

NM_000218.3

p.A344A

c.1032G>C

3 papers

NM_000218.3

p.A344A

c.1032G>T

14 papers

NM_000218.3

p.A344E

c.1031C>A

5 papers

NM_000218.3

p.A344G

c.1031C>G

54 papers

NM_000218.3

p.A344V

c.1031C>T

5 papers

NM_000218.3

p.A344_G345Splc

c.1032+1G>A

1 paper

NM_000218.3

p.A344T

c.1030G>A

1 paper

NM_000218.3

p.A344P

c.1030G>C

1 paper

NM_000218.3

p.A344S

c.1030G>T

1 paper

NM_000218.3

p.A344_G345Splc

c.1032+2T>C

4 papers

NM_000218.3

p.A344_G345Splc

c.1032+3A>G

7 papers

NM_000218.3

p.P343R

c.1028C>G