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.R1051W

c.3151A>T

Surrounding Variants

1 paper

NM_000238.4

p.R1051Splc

c.3152+2T>C

1 paper

NM_172057.3

p.R711Splc

c.2132+3G>T

2 papers

NM_000238.4

p.L1049P

c.3146T>C

83 papers

NM_000238.4

p.R1047L

c.3140G>T

3 papers

NM_000238.4

p.R1047H

c.3140G>A

3 papers

NM_000238.4

p.R1047C

c.3139C>T

1 paper

NM_000238.4

p.Q1046fs

c.3136_3137fs

1 paper

NM_000238.4

p.R1051Splc

c.3152+12C>A

1 paper

NM_000238.4

p.Q1046fs

c.3136_3137fs

3 papers

NM_000238.4

p.Q1046*

c.3136C>T

1 paper

NM_000238.4

p.L1042_L1045insFs

c.3125_3135dup11

7 papers

NM_000238.4

p.L1045F

c.3133C>T