Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000238.4

p.A430V

c.1289C>T

Surrounding Variants

2 papers

NM_000238.4

p.A430D

c.1289C>A

5 papers

NM_000238.4

p.F431L

c.1291T>C

4 papers

NM_000238.4

p.A429delFs

c.1286delG

1 paper

NM_000238.4

p.F431insFs

c.1292_1293insG

1 paper

NM_000238.4

p.A429V

c.1286C>T

1 paper

NM_000238.4

p.A429fs

c.1285_1286fs

8 papers

NM_000238.4

p.A429P

c.1285G>C

5 papers

NM_000238.4

p.F431L

c.1293C>G

1 paper

NM_000238.4

p.F431_L432insFs

c.1293_1294insG

5 papers

NM_000238.4

p.F431L

c.1293C>A

2 papers

NM_000238.4

p.S428fs

c.1282_1283fs

2 papers

NM_000238.4

p.S428delFs

c.1283delG