Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L324_V325Splc

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
36 papers
NM_001282225.2
p.L324_V325Splc
c.973-2A>G
Surrounding Variants
4 papers
NM_001282225.2
p.L324_V325Splc
c.973-1G>A
2 papers
NM_001282225.2
p.V325M
c.973G>A
4 papers
NM_001282225.2
p.V325fs
c.973_974fs
6 papers
NM_001282225.2
p.G326R
c.976G>C
6 papers
NM_001282225.2
p.G326R
c.976G>A
2 papers
NM_001282225.2
p.G326V
c.977G>T
2 papers
NM_001282225.2
p.G326E
c.977G>A
16 papers
NM_001282225.2
p.E328K
c.982G>A
1 paper
NM_001282225.2
p.E328V
c.983A>T
4 papers
NM_001282225.2
p.E328D
c.984G>T
4 papers
NM_001282225.2
p.E328D
c.984G>C
3 papers
NM_001282225.2
p.D329N
c.985G>A
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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."