Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.Q413_V414Splc

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.Q413_V414Splc
c.1240-2A>G
Surrounding Variants
3 papers
NM_001282225.2
p.V414M
c.1240G>A
2 papers
NM_001282225.2
p.Q413_V414Splc
c.1240-5C>G
1 paper
NM_001282225.2
p.K416E
c.1246A>G
3 papers
NM_001282225.2
p.V418L
c.1252G>T
3 papers
NM_001282225.2
p.V418L
c.1252G>C
1 paper
NM_001282225.2
p.D420H
c.1258G>C
2 papers
NM_001282225.2
p.R422M
c.1265G>T
7 papers
NM_001282225.2
p.N423K
c.1269C>G
6 papers
NM_001282225.2
p.N423K
c.1269C>A
3 papers
NM_001282225.2
p.H424N
c.1270C>A
1 paper
NM_001282225.2
p.H424R
c.1271A>G
5 papers
NM_001282225.2
p.P425A
c.1273C>G
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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."