Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.A109P

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
Selected Variant
2 papers
NM_001282225.2
p.A109P
c.325G>C
Surrounding Variants
1 paper
NM_001282225.2
p.A109fs
c.325_326fs
2 papers
NM_001282225.2
p.A109T
c.325G>A
10 papers
NM_001282225.2
p.A109D
c.326C>A
2 papers
NM_001282225.2
p.G108Splc
c.323-2A>G
4 papers
NM_001282225.2
p.H112Y
c.334C>T
2 papers
NM_001282225.2
p.H112P
c.335A>C
21 papers
NM_001282225.2
p.H112Q
c.336C>G
NM_001282227.2
p.H70Q
c.210C>G
21 papers
NM_001282225.2
p.H112Q
c.336C>A
3 papers
NM_001282225.2
p.H114Q
c.342T>G
3 papers
NM_001282225.2
p.H114Q
c.342T>A
1 paper
NM_001282225.2
p.I116fs
c.346_347fs
1 paper
NM_001282225.2
p.I116delFs
c.346delT
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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."