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

4 papers

NM_000238.4

p.S599R

c.1795A>C

Surrounding Variants

2 papers

NM_000238.4

p.S599C

c.1795A>T

1 paper

NM_000238.4

p.P596_N598delFs

c.1787_1794del8

2 papers

NM_000238.4

p.S599T

c.1796G>C

2 papers

NM_000238.4

p.S599N

c.1796G>A

4 papers

NM_000238.4

p.S599R

c.1797C>G

4 papers

NM_000238.4

p.S599R

c.1797C>A

3 papers

NM_000238.4

p.N598S

c.1793A>G

1 paper

NM_000238.4

p.N598T

c.1793A>C

1 paper

NM_000238.4

p.Y597delFs

c.1790_1791delGT

3 papers

NM_000238.4

p.S600C

c.1798A>T

3 papers

NM_000238.4

p.S600R

c.1798A>C

3 papers

NM_000238.4

p.Y597*

c.1791C>G