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

16 papers

NM_000218.3

p.Q356*

c.1066C>T

Surrounding Variants

1 paper

NM_000218.3

p.Q359_H363del0

c.1077_1088del12

3 papers

NM_000218.3

p.V355A

c.1064T>C

2 papers

NM_000218.3

p.Q356_Q357del0

c.1066_1071del6

2 papers

NM_000218.3

p.Q357E

c.1069C>G

2 papers

NM_000218.3

p.Q357*

c.1069C>T

19 papers

NM_000218.3

p.Q357R

c.1070A>G

1 paper

NM_000218.3

p.K354N

c.1062G>C

1 paper

NM_000218.3

p.K354N

c.1062G>T

4 papers

NM_000218.3

p.K354R

c.1061A>G

3 papers

NM_000218.3

p.Q357H

c.1071G>C

3 papers

NM_000218.3

p.Q357H

c.1071G>T

1 paper

NM_000218.3

p.K354Q

c.1060A>C