Varaico: Literature-Extracted Genetic Variants

Gene:ANGEL1
Variant:p.S115N

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.S115N
c.344G>A
Surrounding Variants
1 paper
NM_015305.4
p.N102S
c.305A>G
1 paper
NM_015305.4
p.G141W
c.421G>T
1 paper
NM_015305.4
p.V142delFs
c.424delC
1 paper
NM_015305.4
p.V142fs
c.424_425fs
1 paper
NM_015305.4
p.D83D
c.249T>C
1 paper
NM_015305.4
p.A149D
c.446C>A
1 paper
NM_015305.4
p.P80fs
c.238_239fs
1 paper
NM_015305.4
p.D160A
c.479A>C
2 papers
NM_015305.4
p.P165S
c.493C>T
1 paper
NM_015305.4
p.R65P
c.194G>C
1 paper
NM_015305.4
p.P165L
c.494C>T
1 paper
NM_015305.4
p.Q63Q
c.189G>A
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