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

1 paper

NM_181798.2

p.L220I

c.658C>A

Surrounding Variants

2 papers

NM_000218.3

p.L347F

c.1039C>T

1 paper

NM_000218.3

p.L347H

c.1040T>A

2 papers

NM_000218.3

p.L347P

c.1040T>C

4 papers

NM_000218.3

p.L347R

c.1040T>G

1 paper

NM_000218.3

p.G348S

c.1042G>A

2 papers

NM_000218.3

p.G348D

c.1043G>A

4 papers

NM_000218.3

p.G348A

c.1043G>C

1 paper

NM_000218.3

p.G348_F351delFs

c.1044_1051del8

25 papers

NM_000218.3

p.G345E

c.1034G>A

8 papers

NM_000218.3

p.G345A

c.1034G>C

5 papers

NM_000218.3

p.G345V

c.1034G>T

15 papers

NM_000218.3

p.G345R

c.1033G>A