Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.I480T

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.I480T
c.1439T>C
Surrounding Variants
2 papers
NM_001282225.2
p.K481E
c.1441A>G
1 paper
NM_001282225.2
p.S479P
c.1435T>C
1 paper
NM_001282225.2
p.K481Splc
c.1442+2T>G
1 paper
NM_001282225.2
p.K481Splc
c.1442+2T>C
2 papers
NM_001282225.2
p.A476V
c.1427C>T
1 paper
NM_001282225.2
p.K481Splc
c.1442+11T>C
2 papers
NM_001282225.2
p.L475M
c.1423C>A
1 paper
NM_001282225.2
p.K473E
c.1417A>G
2 papers
NM_001282225.2
p.R470T
c.1409G>C
1 paper
NM_001282225.2
p.K481Splc
c.1442+31G>A
1 paper
NM_001282225.2
p.L469V
c.1405C>G
1 paper
NM_001282225.2
p.D468E
c.1404C>G
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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."