Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.D454H

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.D454H
c.1360G>C
Surrounding Variants
1 paper
NM_001282225.2
p.D454Y
c.1360G>T
1 paper
NM_001282225.2
p.Y453Y
c.1359T>C
2 papers
NM_001282225.2
p.D454G
c.1361A>G
57 papers
NM_001282225.2
p.Y453C
c.1358A>G
6 papers
NM_001282225.2
p.L451F
c.1353G>T
6 papers
NM_001282225.2
p.L451F
c.1353G>C
11 papers
NM_001282225.2
p.Y456C
c.1367A>G
3 papers
NM_001282225.2
p.L451W
c.1352T>G
1 paper
NM_001282225.2
p.L451fs
c.1351_1352fs
1 paper
NM_001282225.2
p.G450G
c.1350C>T
2 papers
NM_001282225.2
p.G450V
c.1349G>T
3 papers
NM_001282227.2
p.G408A
c.1223G>C
NM_001282225.2
p.G450A
c.1349G>C
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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."