Varaico: Literature-Extracted Genetic Variants

Gene:ANGEL1

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
1–12 of 58 variants
3 papers
NM_015305.4
p.F515C
c.1544T>G
2 papers
NM_015305.4
p.R28*
c.82C>T
2 papers
NM_015305.4
p.P165S
c.493C>T
2 papers
NM_015305.4
p.S555S
c.1665G>A
1 paper
NM_015305.4
p.C5S
c.13T>A
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
1 paper
NM_015305.4
p.Q40delFs
c.118delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."