Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.A335_N336insFs

UROD

232 papers

RefSeq Summary

This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymeth...

Pfam Domains

URO-Daa 14–360UCSCUroporphyrinogen decarboxylase (URO-D)

Gene Aliases

HGNC Name

uroporphyrinogen decarboxylase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000374.5
p.A335_N336insFs
c.1005_1006insC
Surrounding Variants
5 papers
NM_000374.5
p.I334T
c.1001T>C
2 papers
NM_000374.5
p.N336S
c.1007A>G
1 paper
NM_000374.5
p.Y333_I334delFs
c.997_1001del5
7 papers
NM_000374.5
p.R332H
c.995G>A
1 paper
NM_000374.5
p.R332P
c.995G>C
4 papers
NM_000374.5
p.R332C
c.994C>T
1 paper
NM_000374.5
p.R332fs
c.994_995fs
1 paper
NM_000374.5
p.G338insFs
c.1012_1013insT
1 paper
NM_000374.5
p.H339N
c.1015C>A
1 paper
NM_000374.5
p.H339_G340delFs
c.1017_1018delTG
1 paper
NM_000374.5
p.G340delFs
c.1020delG
1 paper
NM_000374.5
p.L341insFs
c.1022_1023insT
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