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.G10A

c.29G>C

Surrounding Variants

1 paper

NM_020897.3

p.E13D

c.39A>C

1 paper

NM_020897.3

p.E13D

c.39A>T

1 paper

NM_020897.3

p.E4K

c.10G>A

1 paper

NM_020897.3

p.E2D

c.6G>C

1 paper

NM_020897.3

p.L19insFs

c.57dupG

1 paper

NM_020897.3

p.P24_V25del1

c.72_74delCGT

1 paper

NM_020897.3

p.P36S

c.106C>T

1 paper

NM_020897.3

p.K39delFs

c.116_117delAA

2 papers

NM_020897.3

p.P42S

c.124C>T

1 paper

NM_020897.3

p.L53L

c.159C>T

1 paper

NM_020897.3

p.R63W

c.187C>T

1 paper

NM_020897.3

p.F65F

c.195C>T