Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.D226N

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.D226N
c.676G>A
Surrounding Variants
1 paper
NM_001282225.2
p.Y227C
c.680A>G
4 papers
NM_001282225.2
p.Y227fs
c.679_680fs
1 paper
NM_001282225.2
p.F224S
c.671T>C
1 paper
NM_001282225.2
p.Y227delFs
c.680_681delAT
2 papers
NM_001282225.2
p.V223A
c.668T>C
1 paper
NM_001282225.2
p.V228V
c.684C>T
2 papers
NM_001282225.2
p.A221_P222delFs
c.661_664del4
3 papers
NM_001282225.2
p.R230W
c.688C>T
1 paper
NM_001282225.2
p.P222S
c.664C>T
1 paper
NM_001282225.2
p.R230Q
c.689G>A
1 paper
NM_001282225.2
p.R230R
c.690G>T
1 paper
NM_001282225.2
p.A221G
c.662C>G
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