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

35 papers

NM_000238.4

p.R1135H

c.3404G>A

Surrounding Variants

1 paper

NM_000238.4

p.R1135C

c.3403C>T

1 paper

NM_000238.4

p.R1135S

c.3403C>A

2 papers

NM_000238.4

p.R1134*

c.3400C>T

3 papers

NM_000238.4

p.S1137A

c.3409T>G

2 papers

NM_000238.4

p.T1133fs

c.3397_3398fs

1 paper

NM_000238.4

p.T1133A

c.3397A>G

5 papers

NM_000238.4

p.P1132A

c.3394C>G

1 paper

NM_000238.4

p.P1128A

c.3382C>G

4 papers

NM_000238.4

p.A1144T

c.3430G>A

1 paper

NM_000238.4

p.E1126G

c.3377A>G

2 papers

NM_000238.4

p.E1126insFs

c.3376dupG

2 papers

NM_000238.4

p.E1126fs

c.3376_3377fs