Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.E457delFs

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.E457delFs
c.1370delT
Surrounding Variants
2 papers
NM_001282225.2
p.V458F
c.1372G>T
1 paper
NM_177405.3
p.V217A
c.650T>C
19 papers
NM_001282225.2
p.V458D
c.1373T>A
NM_177405.3
p.V217D
c.650T>A
11 papers
NM_001282225.2
p.Y456C
c.1367A>G
1 paper
NM_001282225.2
p.M460L
c.1378A>T
1 paper
NM_001282225.2
p.M460L
c.1378A>C
3 papers
NM_001282225.2
p.M460K
c.1379T>A
3 papers
NM_001282225.2
p.M460I
c.1380G>T
3 papers
NM_001282225.2
p.M460I
c.1380G>C
3 papers
NM_001282225.2
p.M460I
c.1380G>A
2 papers
NM_001282225.2
p.D454G
c.1361A>G
1 paper
NM_001282225.2
p.D454Y
c.1360G>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."