Varaico: Literature-Extracted Genetic Variants

Gene:POMZP3
Variant:p.Q180insFs

POMZP3

17 papers

RefSeq Summary

This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from t...

Pfam Domains

Zona_pellucidaaa 74–139UCSCZP-C domain

Gene Aliases

HGNC Name

POM121 and ZP3 fusion

HGNC Alias Symbol

POM-ZP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012230.5
p.Q180insFs
c.538dupC
Surrounding Variants
1 paper
NM_012230.5
p.R176H
c.527G>A
1 paper
NM_012230.5
p.L187fs
c.559_560fs
2 papers
NM_012230.5
p.L187P
c.560T>C
7 papers
NM_012230.5
p.L187fs
c.559_560fs
6 papers
NM_012230.5
p.L187delFs
c.560delA
4 papers
NM_012230.5
p.L153P
c.458T>C
1 paper
NM_012230.5
p.N135H
c.403A>C
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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."