Varaico: Literature-Extracted Genetic Variants

Gene:UROS
Variant:p.A69E

UROS

207 papers

RefSeq Summary

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease...

Pfam Domains

HEM4aa 17–138UCSCUroporphyrinogen-III synthase HemD

Gene Aliases

HGNC Name

uroporphyrinogen III synthase

HGNC Alias Name

congenital erythropoietic porphyria

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000375.3
p.A69E
c.206C>A
Surrounding Variants
1 paper
NM_000375.3
p.A69V
c.206C>T
12 papers
NM_000375.3
p.A69T
c.205G>A
18 papers
NM_000375.3
p.A66V
c.197C>T
1 paper
NM_000375.3
p.L72F
c.216A>T
1 paper
NM_000375.3
p.L72F
c.216A>C
1 paper
NM_000375.3
p.L72insFs
c.215dupT
1 paper
NM_000375.3
p.C73G
c.217T>G
100 papers
NM_000375.3
p.C73R
c.217T>C
3 papers
NM_000375.3
p.C73S
c.217T>A
1 paper
NM_000375.3
p.C73F
c.218G>T
3 papers
NM_000375.3
p.C73S
c.218G>C
3 papers
NM_000375.3
p.C73Y
c.218G>A
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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."