Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R49W

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
5 papers
NM_001282225.2
p.R49W
c.145C>T
Surrounding Variants
23 papers
NM_001282225.2
p.R49fs
c.145_146fs
10 papers
NM_001282225.2
p.G48insFs
c.144dupG
17 papers
NM_001282225.2
p.G48delFs
c.144delC
2 papers
NM_001282225.2
p.G48fs
c.142_143fs
1 paper
NM_001282225.2
p.G48Fs
c.143_144delinsTFs
3 papers
NM_001282225.2
p.G48V
c.143G>T
6 papers
NM_001282225.2
p.R49fs
c.145_146fs
5 papers
NM_001282225.2
p.G48R
c.142G>C
5 papers
NM_001282225.2
p.G48R
c.142G>A
1 paper
NM_001282225.2
p.G48fs
c.142_143fs
1 paper
NM_001282225.2
p.L46_G47del2
c.136_140del6
36 papers
NM_001282225.2
p.G47V
c.140G>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."