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.E876K

c.2626G>A

Surrounding Variants

7 papers

NM_000238.4

p.E876*

c.2626G>T

1 paper

NM_000238.4

p.G873_E876insFs

c.2619_2626dup8

2 papers

NM_000238.4

p.E876fs

c.2626_2627fs

1 paper

NM_000238.4

p.T875M

c.2624C>T

1 paper

NM_000238.4

p.S871_G873delFs

c.2613_2617del5

9 papers

NM_000238.4

p.G873S

c.2617G>A

8 papers

NM_000238.4

p.P872delFs

c.2616delG

2 papers

NM_000238.4

p.G873fs

c.2617_2618fs

4 papers

NM_000238.4

p.P872fs

c.2614_2615fs

1 paper

NM_000238.4

p.G879fs

c.2635_2636fs

1 paper

NM_000238.4

p.P872L

c.2615C>T

1 paper

NM_000238.4

p.G870insFs

c.2609_2610ins8