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.V255A

c.764T>C

Surrounding Variants

1 paper

NM_000218.3

p.V254E

c.761T>A

7 papers

NM_000218.3

p.V254A

c.761T>C

84 papers

NM_000218.3

p.V254M

c.760G>A

16 papers

NM_000218.3

p.V254L

c.760G>C

16 papers

NM_000218.3

p.V254L

c.760G>T

1 paper

NM_000218.3

p.I257L

c.769A>C

8 papers

NM_000218.3

p.S253C

c.758C>G

1 paper

NM_000218.3

p.S253F

c.758C>T

1 paper

NM_000218.3

p.I257S

c.770T>G

5 papers

NM_000218.3

p.S253A

c.757T>G

2 papers

NM_000218.3

p.S253delins

c.757_758delinsAA

4 papers

NM_000218.3

p.H258N

c.772C>A