Varaico: Literature-Extracted Genetic Variants

Gene:ANGEL1
Variant:p.C5S

ANGEL1

57 papers

Pfam Domains

Exo_endo_phosaa 248–656UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

angel homolog 1

HGNC Previous Symbol

KIAA0759

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015305.4
p.C5S
c.13T>A
Surrounding Variants
1 paper
NM_015305.4
p.C5S
c.14G>C
1 paper
NM_015305.4
p.Y8*
c.24C>G
1 paper
NM_015305.4
p.Y8*
c.24C>A
1 paper
NM_015305.4
p.L9V
c.25C>G
1 paper
NM_015305.4
p.A23fs
c.67_68fs
1 paper
NM_015305.4
p.F24S
c.71T>C
2 papers
NM_015305.4
p.R28*
c.82C>T
1 paper
NM_015305.4
p.Q40delFs
c.118delG
1 paper
NM_015305.4
p.Q40fs
c.118_119fs
1 paper
NM_015305.4
p.Q63Q
c.189G>A
1 paper
NM_015305.4
p.R65P
c.194G>C
1 paper
NM_015305.4
p.P80fs
c.238_239fs
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