Varaico: Literature-Extracted Genetic Variants

Gene:DAZAP1
Variant:p.Q395*

DAZAP1

76 papers

RefSeq Summary

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromo...

Pfam Domains

RRM_1aa 12–81UCSCRNA recognition motif
RRM_1aa 115–184UCSCRNA recognition motif

Gene Aliases

HGNC Name

DAZ associated protein 1

HGNC Alias Symbol

MGC19907

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018959.4
p.Q395*
c.1183C>T
Surrounding Variants
1 paper
NM_018959.4
p.R393Q
c.1178G>A
1 paper
NM_018959.4
p.G390D
c.1169G>A
1 paper
NM_018959.4
p.A386fs
c.1156_1157fs
1 paper
NM_018959.4
p.Y405N
c.1213T>A
1 paper
NM_018959.4
p.Y405H
c.1213T>C
1 paper
NM_018959.4
p.Y405*
c.1215C>A
1 paper
NM_018959.4
p.Y405*
c.1215C>G
4 papers
NM_018959.4
p.R406*
c.1216C>T
1 paper
NM_018959.4
p.G383G
c.1149C>T
1 paper
NM_018959.4
p.R406Q
c.1217G>A
2 papers
NM_018959.4
p.G383A
c.1148G>C
1 paper
NM_018959.4
p.G383ins1
c.1148_1149insGGC
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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."