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

15 papers

NM_000218.3

p.F275S

c.824T>C

Surrounding Variants

9 papers

NM_000218.3

p.S276_S277del1

c.828_830delCTC

1 paper

NM_000218.3

p.F275L

c.825C>A

1 paper

NM_000218.3

p.F275L

c.825C>G

1 paper

NM_000218.3

p.F275F

c.825C>T

2 papers

NM_000218.3

p.S276delFs

c.826delT

1 paper

NM_000218.3

p.F275L

c.823T>C

1 paper

NM_000218.3

p.S276T

c.826T>A

1 paper

NM_000218.3

p.S276A

c.826T>G

2 papers

NM_000218.3

p.I274N

c.821T>A

24 papers

NM_000218.3

p.I274V

c.820A>G

2 papers

NM_000218.3

p.I274fs

c.820_821fs

6 papers

NM_000218.3

p.F275del1

c.823_824delTTC