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

49 papers

NM_000218.3

p.A341E

c.1022C>A

Surrounding Variants

6 papers

NM_000218.3

p.A341G

c.1022C>G

220 papers

NM_000218.3

p.A341V

c.1022C>T

2 papers

NM_000218.3

p.A341T

c.1021G>A

1 paper

NM_000218.3

p.A341P

c.1021G>C

1 paper

NM_000218.3

p.A341S

c.1021G>T

2 papers

NM_000218.3

p.A341_L342delins

c.1023_1024delinsTT

30 papers

NM_000218.3

p.L342F

c.1024C>T

5 papers

NM_000218.3

p.F340L

c.1020T>A

5 papers

NM_000218.3

p.F340L

c.1020T>G

6 papers

NM_000218.3

p.F340Y

c.1019T>A

1 paper

NM_000218.3

p.L342H

c.1025T>A

2 papers

NM_000218.3

p.L342P

c.1025T>C