Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.Q173*

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.Q173*
c.517C>T
Surrounding Variants
1 paper
NM_001282225.2
p.R171Q
c.512G>A
2 papers
NM_001282225.2
p.R171W
c.511C>T
1 paper
NM_001282225.2
p.V175D
c.524T>A
1 paper
NM_001282225.2
p.K170M
c.509A>T
114 papers
NM_001282225.2
p.R169Q
c.506G>A
4 papers
NM_001282225.2
p.R169W
c.505C>T
8 papers
NM_001282225.2
p.R169G
c.505C>G
7 papers
NM_001282225.2
p.F178S
c.533T>C
2 papers
NM_001282225.2
p.L164P
c.491T>C
7 papers
NM_001282225.2
p.S181Splc
c.542+1G>A
1 paper
NM_001282225.2
p.C159_I163Fs
c.475_489delinsAFs
2 papers
NM_001282225.2
p.W162R
c.484T>C
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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."