Varaico: Literature-Extracted Genetic Variants

HCN3

94 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding ...

Pfam Domains

Ion_trans_Naa 49–92UCSCIon transport protein N-terminal

Ion_transaa 93–358UCSCIon transport protein

cNMP_bindingaa 446–529UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 3

HGNC Alias Symbol

KIAA1535

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020897.3

p.R481R

c.1443G>A

Surrounding Variants

1 paper

NM_020897.3

p.R481W

c.1441C>T

1 paper

NM_020897.3

p.R484H

c.1451G>A

1 paper

NM_020897.3

p.R478H

c.1433G>A

2 papers

NM_020897.3

p.D487N

c.1459G>A

1 paper

NM_020897.3

p.F467F

c.1401C>T

2 papers

NM_020897.3

p.R457H

c.1370G>A

1 paper

NM_020897.3

p.P451L

c.1352C>T

1 paper

NM_020897.3

p.R445C

c.1333C>T

1 paper

NM_020897.3

p.L444P

c.1331T>C

1 paper

NM_020897.3

p.D433N

c.1297G>A

1 paper

NM_020897.3

p.R420W

c.1258C>T

1 paper

NM_020897.3

p.C419G

c.1255T>G