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.R100P

c.299G>C

Surrounding Variants

2 papers

NM_000238.4

p.R100L

c.299G>T

6 papers

NM_000238.4

p.R100Q

c.299G>A

8 papers

NM_000238.4

p.R100W

c.298C>T

12 papers

NM_000238.4

p.R100G

c.298C>G

1 paper

NM_000238.4

p.R100_K101insC

c.298_302ins3

19 papers

NM_000238.4

p.K101E

c.301A>G

5 papers

NM_000238.4

p.K101Q

c.301A>C

4 papers

NM_000238.4

p.K101I

c.302A>T

6 papers

NM_000238.4

p.Y99C

c.296A>G

2 papers

NM_000238.4

p.K101R

c.302A>G

12 papers

NM_000238.4

p.Y99S

c.296A>C

1 paper

NM_000238.4

p.K101T

c.302A>C