Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.V426delFs

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.V426delFs
c.1276delC
Surrounding Variants
1 paper
NM_001282225.2
p.V426L
c.1276G>T
1 paper
NM_001282225.2
p.V426L
c.1276G>C
1 paper
NM_001282225.2
p.D420_V426del7
c.1258_1277del21
5 papers
NM_001282225.2
p.P425A
c.1273C>G
1 paper
NM_001282225.2
p.T428P
c.1282A>C
1 paper
NM_001282225.2
p.H424R
c.1271A>G
3 papers
NM_001282225.2
p.H424N
c.1270C>A
7 papers
NM_001282225.2
p.N423K
c.1269C>G
6 papers
NM_001282225.2
p.N423K
c.1269C>A
2 papers
NM_001282225.2
p.M430R
c.1289T>G
2 papers
NM_001282225.2
p.R422M
c.1265G>T
1 paper
NM_001282225.2
p.A431V
c.1292C>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."