Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.N127I

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
4 papers
NM_001282225.2
p.N127I
c.380A>T
Surrounding Variants
4 papers
NM_001282225.2
p.N127S
c.380A>G
1 paper
NM_001282225.2
p.R126G
c.376A>G
9 papers
NM_001282225.2
p.T129P
c.385A>C
1 paper
NM_001282225.2
p.V125G
c.374T>G
1 paper
NM_001282225.2
p.Y130H
c.388T>C
1 paper
NM_001282225.2
p.Y130fs
c.388_389fs
3 papers
NM_001282225.2
p.Y130C
c.389A>G
NM_001282227.2
p.Y88C
c.263A>G
1 paper
NM_001282225.2
p.Y130S
c.389A>C
2 papers
NM_001282225.2
p.W123*
c.369G>A
5 papers
NM_001282225.2
p.R131fs
c.391_392fs
2 papers
NM_001282225.2
p.W123*
c.368G>A
2 papers
NM_001282225.2
p.P132S
c.394C>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."