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.A372T

c.1114G>A

Surrounding Variants

1 paper

NM_000218.3

p.A372P

c.1114G>C

1 paper

NM_000218.3

p.A372S

c.1114G>T

10 papers

NM_000218.3

p.A372D

c.1115C>A

1 paper

NM_000218.3

p.A372G

c.1115C>G

3 papers

NM_000218.3

p.A372V

c.1115C>T

2 papers

NM_000218.3

p.A371E

c.1112C>A

2 papers

NM_000218.3

p.A371G

c.1112C>G

1 paper

NM_000218.3

p.A371V

c.1112C>T

14 papers

NM_000218.3

p.A371T

c.1111G>A

4 papers

NM_000218.3

p.A371P

c.1111G>C

2 papers

NM_000218.3

p.A371S

c.1111G>T

24 papers

NM_000218.3

p.S373P

c.1117T>C