Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.S291F

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_001282227.2
p.S291F
c.872C>T
Surrounding Variants
2 papers
NM_001282225.2
p.L334S
c.1001T>C
13 papers
NM_001282225.2
p.H335R
c.1004A>G
NM_177405.3
p.H94R
c.281A>G
NM_001282227.2
p.H293R
c.878A>G
4 papers
NM_001282225.2
p.H335P
c.1004A>C
NM_001282227.2
p.H293P
c.878A>C
2 papers
NM_001282225.2
p.D336G
c.1007A>G
3 papers
NM_001282225.2
p.D329N
c.985G>A
4 papers
NM_001282225.2
p.E328D
c.984G>T
4 papers
NM_001282225.2
p.E328D
c.984G>C
1 paper
NM_001282225.2
p.E328V
c.983A>T
16 papers
NM_001282225.2
p.E328K
c.982G>A
2 papers
NM_001282225.2
p.G326V
c.977G>T
2 papers
NM_001282225.2
p.G326E
c.977G>A
6 papers
NM_001282225.2
p.G326R
c.976G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."