Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.C137F

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
2 papers
NM_001282225.2
p.C137F
c.410G>T
Surrounding Variants
2 papers
NM_001282225.2
p.C137_F138insC
c.409_413ins3
2 papers
NM_001282225.2
p.C137R
c.409T>C
1 paper
NM_001282225.2
p.Y130_I136delFs
c.389_407del19
1 paper
NM_001282225.2
p.T139A
c.415A>G
3 papers
NM_001282225.2
p.T139P
c.415A>C
3 papers
NM_001282225.2
p.C134Y
c.401G>A
1 paper
NM_001282225.2
p.P140insFs
c.419dupC
1 paper
NM_001282225.2
p.R141fs
c.421_422fs
3 papers
NM_001282225.2
p.P132_H133delFs
c.396_397delGA
1 paper
NM_001282225.2
p.H133D
c.397C>G
1 paper
NM_001282225.2
p.H133fs
c.397_398fs
3 papers
NM_001282225.2
p.G142R
c.424G>A
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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."