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

31 papers

NM_000218.3

p.L114P

c.341T>C

Surrounding Variants

1 paper

NM_000218.3

p.L114F

c.340C>T

5 papers

NM_000218.3

p.E115K

c.343G>A

5 papers

NM_000218.3

p.E115A

c.344A>C

16 papers

NM_000218.3

p.E115G

c.344A>G

1 paper

NM_000218.3

p.E115V

c.344A>T

1 paper

NM_000218.3

p.F113Y

c.338T>A

1 paper

NM_000218.3

p.F113S

c.338T>C

2 papers

NM_000218.3

p.F113C

c.338T>G

9 papers

NM_000218.3

p.E115E

c.345G>A

1 paper

NM_000218.3

p.E115D

c.345G>C

2 papers

NM_000218.3

p.E115D

c.345G>T

2 papers

NM_000218.3

p.R116S

c.346C>A