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.A83P

c.247G>C

Surrounding Variants

2 papers

NM_000238.4

p.A83S

c.247G>T

1 paper

NM_000238.4

p.A83T

c.247G>A

1 paper

NM_000238.4

p.I82I

c.246C>T

2 papers

NM_000238.4

p.I82M

c.246C>G

1 paper

NM_000238.4

p.I82I

c.246C>A

10 papers

NM_000238.4

p.I82T

c.245T>C

3 papers

NM_000238.4

p.A83fs

c.247_248fs

1 paper

NM_000238.4

p.A83_Q84ins3

c.249_250ins9

1 paper

NM_000238.4

p.A83A

c.249G>A

1 paper

NM_000238.4

p.Q84fs

c.250_251fs

1 paper

NM_000238.4

p.Q84*

c.250C>T

1 paper

NM_000238.4

p.I82fs

c.244_245fs