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.V377A

c.1130T>C

Surrounding Variants

1 paper

NM_000238.4

p.V377F

c.1129G>T

1 paper

NM_000238.4

p.V377fs

c.1129_1130fs

1 paper

NM_000238.4

p.Q376_V377Splc

c.1129-1G>A

1 paper

NM_000238.4

p.L378Q

c.1133T>A

2 papers

NM_000238.4

p.Q376_V377Splc

c.1129-2A>G

1 paper

NM_000238.4

p.S379F

c.1136C>T

1 paper

NM_000238.4

p.L380P

c.1139T>C

1 paper

NM_000238.4

p.L380fs

c.1138_1139fs

3 papers

NM_000238.4

p.Q376_V377Splc

c.1129-9C>T

1 paper

NM_000238.4

p.G381D

c.1142G>A

2 papers

NM_000238.4

p.A382T

c.1144G>A

1 paper

NM_000238.4

p.A382D

c.1145C>A