Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.H133D

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.H133D
c.397C>G
Surrounding Variants
1 paper
NM_001282225.2
p.H133fs
c.397_398fs
3 papers
NM_001282225.2
p.P132_H133delFs
c.396_397delGA
1 paper
NM_001282225.2
p.P132L
c.395C>T
2 papers
NM_001282225.2
p.P132S
c.394C>T
2 papers
NM_001282225.2
p.P132T
c.394C>A
3 papers
NM_001282225.2
p.R131delFs
c.393delC
3 papers
NM_001282225.2
p.C134Y
c.401G>A
5 papers
NM_001282225.2
p.R131fs
c.391_392fs
3 papers
NM_001282225.2
p.Y130C
c.389A>G
NM_001282227.2
p.Y88C
c.263A>G
1 paper
NM_001282225.2
p.Y130S
c.389A>C
1 paper
NM_001282225.2
p.Y130H
c.388T>C
1 paper
NM_001282225.2
p.Y130fs
c.388_389fs
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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."