Varaico: Literature-Extracted Genetic Variants

Gene:EXD2
Variant:p.Q518L

EXD2

34 papers

Pfam Domains

DNA_pol_A_exo1aa 80–259UCSC3'-5' exonuclease

Gene Aliases

HGNC Name

exonuclease 3'-5' domain containing 2

HGNC Previous Symbols

C14orf114; EXDL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001193360.2
p.Q518L
c.1553A>T
Surrounding Variants
2 papers
NM_001193360.2
p.Q518H
c.1554G>C
2 papers
NM_001193360.2
p.Q518H
c.1554G>T
2 papers
NM_001193360.2
p.E513D
c.1539G>C
2 papers
NM_001193360.2
p.E513D
c.1539G>T
2 papers
NM_001193360.2
p.D534D
c.1602C>T
1 paper
NM_001193360.2
p.R500W
c.1498C>T
1 paper
NM_001193360.2
p.R492H
c.1475G>A
1 paper
NM_001193360.2
p.K479R
c.1436A>G
1 paper
NM_001193360.2
p.Q475P
c.1424A>C
1 paper
NM_001193360.2
p.K474R
c.1421A>G
1 paper
NM_001193360.2
p.L473L
c.1417C>T
1 paper
NM_001193360.2
p.Y469H
c.1405T>C
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