Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.N328K

ADA

672 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human dis...

Pfam Domains

A_deaminaseaa 10–204UCSCAdenosine deaminase
A_deaminaseaa 201–326UCSCAdenosine deaminase

Gene Aliases

HGNC Name

adenosine deaminase

HGNC Alias Symbol

ADA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000022.4
p.N328K
c.984T>A
Surrounding Variants
2 papers
NM_000022.4
p.N328K
c.984T>G
1 paper
NM_000022.4
p.N328I
c.983A>T
2 papers
NM_000022.4
p.N328S
c.983A>G
18 papers
NM_000022.4
p.A329V
c.986C>T
1 paper
NM_000022.4
p.N328H
c.982A>C
1 paper
NM_000022.4
p.A330T
c.988G>A
1 paper
NM_000022.4
p.A330V
c.989C>T
1 paper
NM_000022.4
p.I327V
c.979A>G
1 paper
NM_000022.4
p.N326D
c.976A>G
1 paper
NM_000022.4
p.K331T
c.992A>C
1 paper
NM_000022.4
p.L325_N326Splc
c.976-1G>C
1 paper
NM_000022.4
p.S332F
c.995C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."