Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.P344S

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
3 papers
NM_001282225.2
p.P344S
c.1030C>T
Surrounding Variants
6 papers
NM_001282225.2
p.P344L
c.1031C>T
1 paper
NM_001282225.2
p.A345T
c.1033G>A
1 paper
NM_001282225.2
p.L341delFs
c.1021delG
3 papers
NM_001282225.2
p.V349I
c.1045G>A
13 papers
NM_001282225.2
p.L351Q
c.1052T>A
1 paper
NM_001282225.2
p.L351L
c.1053G>T
2 papers
NM_001282225.2
p.D336G
c.1007A>G
1 paper
NM_001282225.2
p.P352L
c.1055C>T
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
6 papers
NM_001282225.2
p.Y353H
c.1057T>C
2 papers
NM_001282225.2
p.L334S
c.1001T>C
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