Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.F355S

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.F355S
c.1064T>C
Surrounding Variants
16 papers
NM_001282225.2
p.F355L
c.1063T>C
16 papers
NM_001282225.2
p.F355L
c.1065C>G
16 papers
NM_001282225.2
p.F355L
c.1065C>A
1 paper
NM_001282227.2
p.H314H
c.942C>T
1 paper
NM_001282225.2
p.A357P
c.1069G>C
16 papers
NM_001282225.2
p.A357T
c.1069G>A
6 papers
NM_001282225.2
p.Y353H
c.1057T>C
1 paper
NM_001282225.2
p.A357A
c.1071C>T
32 papers
NM_001282225.2
p.G358R
c.1072G>C
32 papers
NM_001282225.2
p.G358R
c.1072G>A
1 paper
NM_001282225.2
p.P352L
c.1055C>T
1 paper
NM_001282225.2
p.E359*
c.1075G>T
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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."