Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G216S

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.G216S
c.646G>A
Surrounding Variants
1 paper
NM_001282225.2
p.G216V
c.647G>T
2 papers
NM_001282225.2
p.L217H
c.650T>A
4 papers
NM_001282225.2
p.F212del1
c.634_635delGAA
1 paper
NM_001282225.2
p.F212L
c.636C>G
1 paper
NM_001282225.2
p.F212L
c.636C>A
1 paper
NM_001282225.2
p.F212L
c.634T>C
2 papers
NM_001282225.2
p.F211Y
c.632T>A
4 papers
NM_001282225.2
p.Y220*
c.660C>G
4 papers
NM_001282225.2
p.Y220*
c.660C>A
2 papers
NM_001282225.2
p.A221T
c.661G>A
1 paper
NM_001282225.2
p.A221fs
c.661_662fs
1 paper
NM_001282225.2
p.A221G
c.662C>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."