Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.A431V

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.A431V
c.1292C>T
Surrounding Variants
2 papers
NM_001282225.2
p.M430R
c.1289T>G
1 paper
NM_001282225.2
p.H434fs
c.1300_1301fs
1 paper
NM_001282225.2
p.H434insFs
c.1301dupA
1 paper
NM_001282225.2
p.T428P
c.1282A>C
7 papers
NM_001282225.2
p.P435A
c.1303C>G
1 paper
NM_001282225.2
p.D420_V426del7
c.1258_1277del21
3 papers
NM_001282225.2
p.M436T
c.1307T>C
1 paper
NM_001282225.2
p.V426delFs
c.1276delC
1 paper
NM_001282225.2
p.V426L
c.1276G>T
1 paper
NM_001282225.2
p.V426L
c.1276G>C
1 paper
NM_001282225.2
p.V437M
c.1309G>A
1 paper
NM_001282225.2
p.V437V
c.1311G>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."