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

2 papers

NM_020897.3

p.D398Y

c.1192G>T

Surrounding Variants

1 paper

NM_020897.3

p.E399Q

c.1195G>C

1 paper

NM_020897.3

p.R411H

c.1232G>A

1 paper

NM_020897.3

p.R383H

c.1148G>A

1 paper

NM_020897.3

p.R383C

c.1147C>T

1 paper

NM_020897.3

p.H374Y

c.1120C>T

1 paper

NM_020897.3

p.F373F

c.1119C>T

1 paper

NM_020897.3

p.E413D

c.1239G>C

1 paper

NM_020897.3

p.T418_H425del8

c.1252_1274del24

1 paper

NM_020897.3

p.T418_H425del0

c.1254_1274del21

1 paper

NM_020897.3

p.C419G

c.1255T>G

1 paper

NM_020897.3

p.R420W

c.1258C>T

1 paper

NM_020897.3

p.D433N

c.1297G>A