Varaico: Literature-Extracted Genetic Variants

Gene:ADA2

ADA2

401 papers

RefSeq Summary

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling mole...

Pfam Domains

A_deaminase_Naa 11–102UCSCAdenosine/AMP deaminase N-terminal
A_deaminaseaa 185–499UCSCAdenosine deaminase

Gene Aliases

HGNC Name

adenosine deaminase 2

HGNC Previous Symbols

IDGFL; CECR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 558 variants
119 papers
NM_001282225.2
p.G47R
c.139G>A
114 papers
NM_001282225.2
p.G47R
c.139G>C
114 papers
NM_001282225.2
p.R169Q
c.506G>A
57 papers
NM_001282225.2
p.Y453C
c.1358A>G
43 papers
NM_001282225.2
p.G47A
c.140G>C
36 papers
NM_001282225.2
p.G47V
c.140G>T
36 papers
NM_001282225.2
p.L324_V325Splc
c.973-2A>G
32 papers
NM_001282225.2
p.G358R
c.1072G>C
32 papers
NM_001282225.2
p.G358R
c.1072G>A
29 papers
NM_001282225.2
p.T360A
c.1078A>G
26 papers
NM_001282225.2
p.P251L
c.752C>T
23 papers
NM_001282225.2
p.R49fs
c.145_146fs
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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."