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

9 papers

NM_000218.3

p.F351L

c.1051T>C

Surrounding Variants

1 paper

NM_000218.3

p.F351fs

c.1051_1052fs

8 papers

NM_000218.3

p.F351S

c.1052T>C

2 papers

NM_000218.3

p.G350A

c.1049G>C

6 papers

NM_000218.3

p.G350V

c.1049G>T

1 paper

NM_000218.3

p.F351_V355del0

c.1051_1065del15

10 papers

NM_000218.3

p.F351L

c.1053T>A

10 papers

NM_000218.3

p.F351L

c.1053T>G

11 papers

NM_000218.3

p.G350R

c.1048G>A

1 paper

NM_000218.3

p.A352T

c.1054G>A

11 papers

NM_000218.3

p.G350R

c.1048G>C

2 papers

NM_000218.3

p.A352P

c.1054G>C

3 papers

NM_000218.3

p.G350W

c.1048G>T