Varaico: Literature-Extracted Genetic Variants

Gene:DAZ2
Variant:p.F296S

DAZ2

9 papers

RefSeq Summary

This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogon...

Pfam Domains

RRM_1aa 42–109UCSCRNA recognition motif
Dazaa 170–190UCSCDaz repeat
Dazaa 194–214UCSCDaz repeat
Dazaa 218–238UCSCDaz repeat
Dazaa 242–262UCSCDaz repeat
Dazaa 242–262UCSCDaz repeat

Gene Aliases

HGNC Name

deleted in azoospermia 2

HGNC Alias Symbols

pDP1678; MGC126442

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001389303.1
p.F296S
c.887T>C
Surrounding Variants
1 paper
NM_001389303.1
p.Q262E
c.784C>G
1 paper
NM_001389303.1
p.Y254H
c.760T>C
1 paper
NM_001389303.1
p.Y219C
c.656A>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."