Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L46insFs

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.L46insFs
c.137_138insC
Surrounding Variants
1 paper
NM_001282225.2
p.L46insFs
c.137dupT
1 paper
NM_001282225.2
p.L46L
c.138G>C
19 papers
NM_001282225.2
p.G47W
c.139G>T
114 papers
NM_001282225.2
p.G47R
c.139G>C
119 papers
NM_001282225.2
p.G47R
c.139G>A
1 paper
NM_001282225.2
p.L46_G47delins
c.138_139delinsCA
36 papers
NM_001282225.2
p.G47V
c.140G>T
43 papers
NM_001282225.2
p.G47A
c.140G>C
2 papers
NM_001282225.2
p.G47E
c.140G>A
1 paper
NM_001282225.2
p.R45Q
c.134G>A
4 papers
NM_001282225.2
p.R45W
c.133C>T
5 papers
NM_001282225.2
p.G48R
c.142G>C
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