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.I313S

c.938T>G

Surrounding Variants

3 papers

NM_000218.3

p.I313N

c.938T>A

3 papers

NM_000218.3

p.I313V

c.937A>G

1 paper

NM_000218.3

p.I313F

c.937A>T

3 papers

NM_000218.3

p.I313I

c.939C>A

11 papers

NM_000218.3

p.I313M

c.939C>G

1 paper

NM_000218.3

p.G314_Y315del0

c.940_945del6

80 papers

NM_000218.3

p.G314S

c.940G>A

7 papers

NM_000218.3

p.G314R

c.940G>C

8 papers

NM_000218.3

p.G314C

c.940G>T

9 papers

NM_000218.3

p.T312S

c.935C>G

41 papers

NM_000218.3

p.T312I

c.935C>T

15 papers

NM_000218.3

p.G314D

c.941G>A