Varaico: Literature-Extracted Genetic Variants

Gene:MOXD1
Variant:p.F246delFs

MOXD1

66 papers

Pfam Domains

DOMONaa 33–148UCSCDOMON domain
Cu2_monooxygenaa 187–315UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain
Cu2_monoox_Caa 334–491UCSCCopper type II ascorbate-dependent monooxygenase, C-terminal domain

Gene Aliases

HGNC Name

monooxygenase DBH like 1

HGNC Alias Symbols

DKFZP564G202; MOX; dJ248E1.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015529.4
p.F246delFs
c.738delA
Surrounding Variants
1 paper
NM_015529.4
p.F246fs
c.736_737fs
1 paper
NM_015529.4
p.D248N
c.742G>A
2 papers
NM_015529.4
p.V250I
c.748G>A
1 paper
NM_015529.4
p.E256D
c.768G>T
1 paper
NM_015529.4
p.E256D
c.768G>C
1 paper
NM_015529.4
p.H259Q
c.777C>G
1 paper
NM_015529.4
p.H259Q
c.777C>A
1 paper
NM_015529.4
p.P224S
c.670C>T
1 paper
NM_015529.4
p.E223D
c.669G>T
1 paper
NM_015529.4
p.E223D
c.669G>C
1 paper
NM_015529.4
p.E223Q
c.667G>C
1 paper
NM_015529.4
p.W276G
c.826T>G
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