Varaico: Literature-Extracted Genetic Variants

Gene:ANGEL1
Variant:p.S249C

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.S249C
c.746C>G
Surrounding Variants
1 paper
NM_015305.4
p.M248T
c.743T>C
1 paper
NM_015305.4
p.Q242_F243ins6
c.726_727ins18
1 paper
NM_015305.4
p.P241S
c.721C>T
1 paper
NM_015305.4
p.Q284E
c.850C>G
1 paper
NM_015305.4
p.E298*
c.892G>T
1 paper
NM_015305.4
p.L312L
c.934C>T
1 paper
NM_015305.4
p.Y215C
c.644A>G
1 paper
NM_015305.4
p.Q192*
c.574C>T
1 paper
NM_015305.4
p.E188E
c.564G>A
1 paper
NM_015305.4
p.A168V
c.503C>T
1 paper
NM_015305.4
p.P165L
c.494C>T
2 papers
NM_015305.4
p.P165S
c.493C>T
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