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

124 papers

NM_000218.3

p.R518*

c.1552C>T

Surrounding Variants

6 papers

NM_000218.3

p.R518G

c.1552C>G

10 papers

NM_000218.3

p.R518Q

c.1553G>A

7 papers

NM_000218.3

p.R518P

c.1553G>C

6 papers

NM_000218.3

p.I517T

c.1550T>C

4 papers

NM_000218.3

p.R519C

c.1555C>T

1 paper

NM_000218.3

p.M520_Q521delFs

c.1559_1562del4

15 papers

NM_000218.3

p.R519H

c.1556G>A

3 papers

NM_000218.3

p.V516D

c.1547T>A

1 paper

NM_000218.3

p.M520fs

c.1558_1559fs

5 papers

NM_000218.3

p.V516I

c.1546G>A

1 paper

NM_000218.3

p.K515N

c.1545G>C

1 paper

NM_000218.3

p.K515N

c.1545G>T