Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.F207L

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.F207L
c.619T>C
Surrounding Variants
2 papers
NM_001282225.2
p.F207V
c.619T>G
4 papers
NM_001282225.2
p.F207C
c.620T>G
3 papers
NM_001282225.2
p.F207S
c.620T>C
2 papers
NM_001282225.2
p.F207L
c.621T>G
2 papers
NM_001282225.2
p.F207L
c.621T>A
1 paper
NM_001282225.2
p.S205L
c.614C>T
1 paper
NM_001282225.2
p.S205W
c.614C>G
3 papers
NM_001282225.2
p.W204C
c.612G>T
3 papers
NM_001282225.2
p.W204C
c.612G>C
1 paper
NM_001282225.2
p.W204*
c.612G>A
1 paper
NM_001282225.2
p.T209I
c.626C>T
2 papers
NM_001282225.2
p.W204L
c.611G>T
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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."