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

2 papers

NM_000238.4

p.E481Q

c.1441G>C

Surrounding Variants

1 paper

NM_000238.4

p.E481*

c.1441G>T

1 paper

NM_000238.4

p.E481K

c.1441G>A

1 paper

NM_000238.4

p.E480D

c.1440G>T

1 paper

NM_000238.4

p.E480D

c.1440G>C

2 papers

NM_000238.4

p.E481V

c.1442A>T

1 paper

NM_000238.4

p.E481G

c.1442A>G

1 paper

NM_000238.4

p.E481A

c.1442A>C

1 paper

NM_000238.4

p.E481D

c.1443G>T

1 paper

NM_000238.4

p.E481D

c.1443G>C

3 papers

NM_000238.4

p.E480V

c.1439A>T

1 paper

NM_000238.4

p.E480G

c.1439A>G

1 paper

NM_000238.4

p.E480A

c.1439A>C