Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G48fs

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.G48fs
c.142_143fs
Surrounding Variants
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.L46_G47del2
c.136_140del6
3 papers
NM_001282225.2
p.G48V
c.143G>T
36 papers
NM_001282225.2
p.G47V
c.140G>T
2 papers
NM_001282225.2
p.G48fs
c.142_143fs
43 papers
NM_001282225.2
p.G47A
c.140G>C
2 papers
NM_001282225.2
p.G47E
c.140G>A
1 paper
NM_001282225.2
p.G48Fs
c.143_144delinsTFs
19 papers
NM_001282225.2
p.G47W
c.139G>T
114 papers
NM_001282225.2
p.G47R
c.139G>C
119 papers
NM_001282225.2
p.G47R
c.139G>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."