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

5 papers

NM_000238.4

p.A79P

c.235G>C

Surrounding Variants

4 papers

NM_000238.4

p.A79S

c.235G>T

3 papers

NM_000238.4

p.A79T

c.235G>A

3 papers

NM_000238.4

p.A79fs

c.235_236fs

1 paper

NM_000238.4

p.A78delFs

c.233delG

2 papers

NM_000238.4

p.T74_A78delFs

c.220_233del14

9 papers

NM_000238.4

p.A78V

c.233C>T

3 papers

NM_000238.4

p.A78G

c.233C>G

1 paper

NM_000238.4

p.A80S

c.238G>T

1 paper

NM_000238.4

p.A78S

c.232G>T

21 papers

NM_000238.4

p.A78P

c.232G>C

7 papers

NM_000238.4

p.A80P

c.238G>C

7 papers

NM_000238.4

p.A78T

c.232G>A