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

6 papers

NM_000218.3

p.E558G

c.1673A>G

Surrounding Variants

1 paper

NM_000218.3

p.E558V

c.1673A>T

1 paper

NM_000218.3

p.E558K

c.1672G>A

1 paper

NM_000218.3

p.L559V

c.1675C>G

1 paper

NM_000218.3

p.K557N

c.1671G>C

1 paper

NM_000218.3

p.K557N

c.1671G>T

3 papers

NM_000218.3

p.K557R

c.1670A>G

2 papers

NM_000218.3

p.L559P

c.1676T>C

15 papers

NM_000218.3

p.K557E

c.1669A>G

1 paper

NM_000218.3

p.I556I

c.1668C>T

1 paper

NM_000218.3

p.Q560L

c.1679A>T

3 papers

NM_000218.3

p.I556N

c.1667T>A

1 paper

NM_000218.3

p.I556_K557insFs

c.1667_1671dup5