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

5 papers

NM_000218.3

p.D242A

c.725A>C

Surrounding Variants

1 paper

NM_000218.3

p.D242V

c.725A>T

3 papers

NM_000218.3

p.D242E

c.726C>A

3 papers

NM_000218.3

p.D242E

c.726C>G

22 papers

NM_000218.3

p.D242N

c.724G>A

NM_181798.2

p.D115N

c.343G>A

7 papers

NM_000218.3

p.D242Y

c.724G>T

6 papers

NM_000218.3

p.R243S

c.727C>A

72 papers

NM_000218.3

p.R243C

c.727C>T

1 paper

NM_000218.3

p.D242delFs

c.724delG

48 papers

NM_000218.3

p.R243H

c.728G>A

7 papers

NM_000218.3

p.R243P

c.728G>C

1 paper

NM_000218.3

p.R243L

c.728G>T

2 papers

NM_000218.3

p.V241A

c.722T>C