Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L12delFs

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.L12delFs
c.35delA
Surrounding Variants
1 paper
NM_001282225.2
p.C13*
c.39C>A
4 papers
NM_001282225.2
p.C13del1
c.37_39delGCA
2 papers
NM_001282225.2
p.A11S
c.31G>T
1 paper
NM_001282225.2
p.L15delFs
c.44delA
1 paper
NM_001282225.2
p.R9Q
c.26G>A
4 papers
NM_001282225.2
p.R9W
c.25C>T
1 paper
NM_001282225.2
p.E8E
c.24G>A
1 paper
NM_001282225.2
p.L16delFs
c.46_47delAG
2 papers
NM_001282225.2
p.E8K
c.22G>A
1 paper
NM_001282225.2
p.P6P
c.18A>G
2 papers
NM_001282225.2
p.G5R
c.13G>C
1 paper
NM_001282225.2
p.D4fs
c.10_11fs
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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."