Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.Q233R

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
1 paper
NM_001282225.2
p.Q233R
c.698A>G
Surrounding Variants
1 paper
NM_001282227.2
p.Q191delFs
c.571delG
1 paper
NM_001282227.2
p.Q191fs
c.571_572fs
1 paper
NM_001282225.2
p.M232I
c.696G>C
1 paper
NM_001282225.2
p.M232R
c.695T>G
2 papers
NM_001282225.2
p.M232T
c.695T>C
2 papers
NM_001282225.2
p.E234D
c.702G>T
2 papers
NM_001282225.2
p.E234D
c.702G>C
1 paper
NM_001282225.2
p.F235insFs
c.703_704insG
2 papers
NM_001282225.2
p.F235L
c.703T>C
2 papers
NM_001282225.2
p.F235L
c.705C>G
2 papers
NM_001282225.2
p.F235L
c.705C>A
1 paper
NM_001282225.2
p.R230R
c.690G>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."