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

3 papers

NM_000238.4

p.A78_Q81delFs

c.234_241del8

Surrounding Variants

2 papers

NM_000238.4

p.Q81R

c.242A>G

3 papers

NM_000238.4

p.Q81P

c.242A>C

1 paper

NM_000238.4

p.A78_Q81insFs

c.234_241dup8

6 papers

NM_000238.4

p.Q81H

c.243G>T

1 paper

NM_000238.4

p.Q81_I82insFs

c.243_244ins8

7 papers

NM_000238.4

p.Q81H

c.243G>C

4 papers

NM_000238.4

p.T74_Q81delFs

c.221_242del22

10 papers

NM_000238.4

p.Q81*

c.241C>T

1 paper

NM_000238.4

p.Q81E

c.241C>G

2 papers

NM_000238.4

p.A80A

c.240G>A

1 paper

NM_000238.4

p.A79del1

c.235_236delGGC

1 paper

NM_000238.4

p.I82fs

c.244_245fs