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.D346E

c.1038C>G

Surrounding Variants

1 paper

NM_000238.4

p.D346insFs

c.1037dupA

2 papers

NM_000238.4

p.D346E

c.1038C>A

44 papers

NM_000238.4

p.P347S

c.1039C>T

1 paper

NM_000238.4

p.D346A

c.1037A>C

3 papers

NM_000238.4

p.D346N

c.1036G>A

1 paper

NM_000238.4

p.P347L

c.1040C>T

1 paper

NM_000238.4

p.F348L

c.1042T>C

1 paper

NM_000238.4

p.G345V

c.1034G>T

1 paper

NM_000238.4

p.G345A

c.1034G>C

3 papers

NM_000238.4

p.G345D

c.1034G>A

2 papers

NM_000238.4

p.F348Y

c.1043T>A

4 papers

NM_000238.4

p.G345R

c.1033G>C