Varaico: Literature-Extracted Genetic Variants

Gene:ANGEL1
Variant:p.I487V

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.I487V
c.1459A>G
Surrounding Variants
3 papers
NM_015305.4
p.F515C
c.1544T>G
1 paper
NM_015305.4
p.I520T
c.1559T>C
1 paper
NM_015305.4
p.G527*
c.1579G>T
1 paper
NM_015305.4
p.E540Splc
c.1618+3A>G
1 paper
NM_015305.4
p.R399Q
c.1196G>A
1 paper
NM_015305.4
p.R398P
c.1193G>C
1 paper
NM_015305.4
p.H392N
c.1174C>A
1 paper
NM_015305.4
p.S382S
c.1146G>A
1 paper
NM_015305.4
p.P372R
c.1115C>G
1 paper
NM_015305.4
p.E357K
c.1069G>A
1 paper
NM_015305.4
p.S347I
c.1040G>T
1 paper
NM_015305.4
p.R340G
c.1018A>G
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