Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.F446S

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.F446S
c.1337T>C
Surrounding Variants
1 paper
NM_001282225.2
p.M445I
c.1335G>T
1 paper
NM_001282225.2
p.M445I
c.1335G>C
1 paper
NM_001282225.2
p.M445I
c.1335G>A
1 paper
NM_001282225.2
p.M445T
c.1334T>C
1 paper
NM_001282225.2
p.M445K
c.1334T>A
2 papers
NM_001282225.2
p.K449fs
c.1345_1346fs
2 papers
NM_001282225.2
p.K449insFs
c.1346_1347insTT
1 paper
NM_001282225.2
p.P443A
c.1327C>G
9 papers
NM_001282225.2
p.G450C
c.1348G>T
2 papers
NM_001282225.2
p.G450R
c.1348G>C
3 papers
NM_001282225.2
p.G450S
c.1348G>A
2 papers
NM_001282225.2
p.G450V
c.1349G>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."