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.I571F

c.1711A>T

Surrounding Variants

10 papers

NM_000238.4

p.I571V

c.1711A>G

12 papers

NM_000238.4

p.I571L

c.1711A>C

1 paper

NM_000238.4

p.A570V

c.1709C>T

4 papers

NM_000238.4

p.I571M

c.1713C>G

1 paper

NM_000238.4

p.A570G

c.1709C>G

1 paper

NM_000238.4

p.A570delFs

c.1708delC

21 papers

NM_000238.4

p.G572C

c.1714G>T

6 papers

NM_000238.4

p.A570S

c.1708G>T

38 papers

NM_000238.4

p.G572R

c.1714G>C

62 papers

NM_000238.4

p.G572S

c.1714G>A

2 papers

NM_000238.4

p.A570T

c.1708G>A

6 papers

NM_000238.4

p.G572V

c.1715G>T