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.H1151fs

c.3451_3452fs

Surrounding Variants

1 paper

NM_000238.4

p.L1150insFs

c.3449_3450insC

10 papers

NM_000238.4

p.H1153Y

c.3457C>T

1 paper

NM_000238.4

p.H1153P

c.3458A>C

2 papers

NM_000238.4

p.T1146S

c.3437C>G

1 paper

NM_000238.4

p.D1156N

c.3466G>A

2 papers

NM_000238.4

p.T1146S

c.3436A>T

1 paper

NM_000238.4

p.L1145L

c.3435C>T

1 paper

NM_000238.4

p.D1156E

c.3468C>G

1 paper

NM_000238.4

p.D1156E

c.3468C>A

1 paper

NM_000238.4

p.P1157S

c.3469C>T

7 papers

NM_000238.4

p.P1157L

c.3470C>T

4 papers

NM_000238.4

p.A1144T

c.3430G>A