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

6 papers

NM_000218.3

p.F340C

c.1019T>G

Surrounding Variants

6 papers

NM_000218.3

p.F340Y

c.1019T>A

5 papers

NM_000218.3

p.F340L

c.1020T>A

1 paper

NM_000218.3

p.F340I

c.1018T>A

5 papers

NM_000218.3

p.F340L

c.1018T>C

5 papers

NM_000218.3

p.F340L

c.1020T>G

3 papers

NM_000218.3

p.F340V

c.1018T>G

2 papers

NM_000218.3

p.F339L

c.1017C>A

2 papers

NM_000218.3

p.F339L

c.1017C>G

8 papers

NM_000218.3

p.F340del1

c.1018_1019delTTT

2 papers

NM_000218.3

p.A341T

c.1021G>A

1 paper

NM_000218.3

p.A341P

c.1021G>C

1 paper

NM_000218.3

p.A341S

c.1021G>T