Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.K466fs

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
5 papers
NM_001282225.2
p.K466fs
c.1396_1397fs
Surrounding Variants
3 papers
NM_001282225.2
p.G464insFs
c.1392dupG
2 papers
NM_001282225.2
p.G464E
c.1391G>A
2 papers
NM_001282225.2
p.G463E
c.1388G>A
1 paper
NM_001282225.2
p.D468E
c.1404C>G
1 paper
NM_001282225.2
p.D468E
c.1404C>A
7 papers
NM_001282225.2
p.K466_D468delFs
c.1397_1403del7
1 paper
NM_001282225.2
p.L469V
c.1405C>G
1 paper
NM_001282225.2
p.I462I
c.1386T>C
4 papers
NM_001282225.2
p.I462T
c.1385T>C
2 papers
NM_001282225.2
p.R470T
c.1409G>C
3 papers
NM_001282225.2
p.M460I
c.1380G>T
3 papers
NM_001282225.2
p.M460I
c.1380G>C
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