Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.P251L

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
26 papers
NM_001282225.2
p.P251L
c.752C>T
Surrounding Variants
4 papers
NM_001282225.2
p.P251P
c.753G>A
5 papers
NM_001282225.2
p.P251_V252Splc
c.753+2T>A
1 paper
NM_001282225.2
p.L250L
c.748C>T
9 papers
NM_001282225.2
p.L249P
c.746T>C
1 paper
NM_001282225.2
p.R248S
c.744G>C
2 papers
NM_001282225.2
p.A247V
c.740C>T
1 paper
NM_001282225.2
p.A247D
c.740C>A
1 paper
NM_001282225.2
p.A247delFs
c.739delC
3 papers
NM_001282225.2
p.D238_R246insFs
c.714_738dup25
2 papers
NM_001282225.2
p.A247fs
c.739_740fs
5 papers
NM_001282225.2
p.R246T
c.737G>C
2 papers
NM_001282225.2
p.R246G
c.736A>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."