Varaico: Literature-Extracted Genetic Variants

Gene:ZNG1E
Variant:p.G144Splc

ZNG1E

11 papers

Pfam Domains

cobWaa 43–113UCSCCobW/HypB/UreG, nucleotide-binding domain
cobWaa 43–211UCSCCobW/HypB/UreG, nucleotide-binding domain
cobWaa 43–231UCSCCobW/HypB/UreG, nucleotide-binding domain
CobW_Caa 254–357UCSCCobalamin synthesis protein cobW C-terminal domain
CobW_Caa 254–357UCSCCobalamin synthesis protein cobW C-terminal domain

Gene Aliases

HGNC Name

Zn regulated GTPase metalloprotein activator 1E

HGNC Previous Symbol

CBWD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330668.2
p.G144Splc
c.430+2T>C
Surrounding Variants
2 papers
NM_001330668.2
p.D132Y
c.394G>T
1 paper
NM_001330668.2
p.L103P
c.308T>C
1 paper
NM_001330668.2
p.L103_R104delFs
c.308_311del4
1 paper
NM_001330668.2
p.V5G
c.14T>G
2 papers
NM_001330668.2
p.T147A
c.439A>G
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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."