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

1–12 of 96 variants

7 papers

NM_020897.3

p.K69R

c.206A>G

4 papers

NM_020897.3

p.P630L

c.1889C>T

2 papers

NM_020897.3

p.P42S

c.124C>T

2 papers

NM_020897.3

p.D398Y

c.1192G>T

2 papers

NM_020897.3

p.R457H

c.1370G>A

2 papers

NM_020897.3

p.D487N

c.1459G>A

2 papers

NM_020897.3

p.Y511C

c.1532A>G

2 papers

NM_020897.3

p.R533C

c.1597C>T

2 papers

NM_020897.3

p.R628W

c.1882C>T

2 papers

NM_020897.3

p.R661Q

c.1982G>A

1 paper

NM_020897.3

p.E2D

c.6G>C

1 paper

NM_020897.3

p.E4K

c.10G>A