Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.D4fs

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.D4fs
c.10_11fs
Surrounding Variants
1 paper
NM_001282225.2
p.V3insFs
c.8dupT
1 paper
NM_001282225.2
p.V3L
c.7G>T
2 papers
NM_001282225.2
p.G5R
c.13G>C
1 paper
NM_001282225.2
p.L2F
c.6G>C
1 paper
NM_001282225.2
p.L2L
c.6G>A
1 paper
NM_001282225.2
p.M1I
c.3G>T
1 paper
NM_001282225.2
p.M1insFs
c.2dupT
1 paper
NM_001282225.2
p.M1I
c.3G>C
2 papers
NM_001282225.2
p.M1I
c.3G>A
18 papers
NM_001282225.2
p.M1T
c.2T>C
1 paper
NM_001282225.2
p.M1K
c.2T>A
1 paper
NM_001282225.2
p.P6P
c.18A>G
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