Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.W123*

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
2 papers
NM_001282225.2
p.W123*
c.368G>A
Surrounding Variants
2 papers
NM_001282225.2
p.W123*
c.369G>A
1 paper
NM_001282225.2
p.V125G
c.374T>G
1 paper
NM_001282225.2
p.M121L
c.361A>C
17 papers
NM_001282225.2
p.T120T
c.360T>A
1 paper
NM_001282225.2
p.R126G
c.376A>G
4 papers
NM_001282225.2
p.N127I
c.380A>T
4 papers
NM_001282225.2
p.N127S
c.380A>G
9 papers
NM_001282225.2
p.T129P
c.385A>C
1 paper
NM_001282225.2
p.G117S
c.349G>A
1 paper
NM_001282225.2
p.Y130H
c.388T>C
1 paper
NM_001282225.2
p.Y130fs
c.388_389fs
1 paper
NM_001282225.2
p.I116delFs
c.346delT
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