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.F471fs

c.1411_1412fs

Surrounding Variants

1 paper

NM_000238.4

p.R472C

c.1414C>T

1 paper

NM_000238.4

p.R472fs

c.1414_1415fs

3 papers

NM_000238.4

p.R472P

c.1415G>C

2 papers

NM_000238.4

p.R472H

c.1415G>A

3 papers

NM_000238.4

p.F471delFs

c.1413delG

1 paper

NM_000238.4

p.N470K

c.1410C>G

1 paper

NM_000238.4

p.N470K

c.1410C>A

1 paper

NM_000238.4

p.T473A

c.1417A>G

13 papers

NM_000238.4

p.T473P

c.1417A>C

2 papers

NM_000238.4

p.T473I

c.1418C>T

6 papers

NM_000238.4

p.T473N

c.1418C>A

103 papers

NM_000238.4

p.N470D

c.1408A>G