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.H762delFs

c.2285_2286delAT

Surrounding Variants

1 paper

NM_172057.3

p.H422delFs

c.1265delT

1 paper

NM_000238.4

p.A763E

c.2288C>A

1 paper

NM_000238.4

p.H762fs

c.2284_2285fs

1 paper

NM_000238.4

p.H762Y

c.2284C>T

1 paper

NM_000238.4

p.P764L

c.2291C>T

3 papers

NM_000238.4

p.P765L

c.2294C>T

1 paper

NM_000238.4

p.T760I

c.2279C>T

2 papers

NM_000238.4

p.D767Y

c.2299G>T

1 paper

NM_000238.4

p.D767fs

c.2299_2300fs

1 paper

NM_000238.4

p.K759E

c.2275A>G

1 paper

NM_000238.4

p.D767delFs

c.2299delC

2 papers

NM_000238.4

p.D767fs

c.2299_2300fs