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

3 papers

NM_000218.3

p.Q357H

c.1071G>C

Surrounding Variants

3 papers

NM_000218.3

p.Q357H

c.1071G>T

19 papers

NM_000218.3

p.Q357R

c.1070A>G

1 paper

NM_000218.3

p.K358E

c.1072A>G

1 paper

NM_000218.3

p.K358T

c.1073A>C

2 papers

NM_000218.3

p.Q357E

c.1069C>G

2 papers

NM_000218.3

p.Q357*

c.1069C>T

1 paper

NM_000218.3

p.K358N

c.1074G>C

1 paper

NM_000218.3

p.K358N

c.1074G>T

1 paper

NM_000218.3

p.Q359_H363del0

c.1077_1088del12

8 papers

NM_000218.3

p.Q359*

c.1075C>T

16 papers

NM_000218.3

p.Q356*

c.1066C>T

1 paper

NM_000218.3

p.R360_Q361insA

c.1078_1082ins3