Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L37_L39del3

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
4 papers
NM_001282225.2
p.L37_L39del3
c.109_116del9
Surrounding Variants
1 paper
NM_001282225.2
p.K40*
c.118A>T
1 paper
NM_001282225.2
p.L39*
c.116T>A
2 papers
NM_001282225.2
p.L37P
c.110T>C
1 paper
NM_001282225.2
p.K42delFs
c.126delC
1 paper
NM_001282225.2
p.A35V
c.104C>T
1 paper
NM_001282225.2
p.A35G
c.104C>G
1 paper
NM_001282225.2
p.R34del1
c.100_101delCCG
4 papers
NM_001282225.2
p.R45W
c.133C>T
1 paper
NM_001282225.2
p.R45Q
c.134G>A
12 papers
NM_001282225.2
p.R34W
c.100C>T
2 papers
NM_001282225.2
p.L46insFs
c.137_138insC
1 paper
NM_001282225.2
p.L46insFs
c.137dupT
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