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.N593D

c.1777A>G

Surrounding Variants

3 papers

NM_000218.3

p.N593K

c.1779C>A

3 papers

NM_000218.3

p.N593K

c.1779C>G

15 papers

NM_000218.3

p.R594*

c.1780C>T

82 papers

NM_000218.3

p.R594Q

c.1781G>A

7 papers

NM_000218.3

p.R594P

c.1781G>C

2 papers

NM_000218.3

p.R594L

c.1781G>T

53 papers

NM_000218.3

p.R591H

c.1772G>A

2 papers

NM_000218.3

p.R591P

c.1772G>C

13 papers

NM_000218.3

p.R591L

c.1772G>T

1 paper

NM_000218.3

p.R591S

c.1771C>A

15 papers

NM_000218.3

p.R591C

c.1771C>T

1 paper

NM_000218.3

p.V595I

c.1783G>A