Varaico: Literature-Extracted Genetic Variants

DAZ1

34 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

RRM_1aa 207–274UCSCRNA recognition motif

RRM_1aa 372–439UCSCRNA recognition motif

Dazaa 500–520UCSCDaz repeat

Dazaa 524–544UCSCDaz repeat

Dazaa 548–568UCSCDaz repeat

Gene Aliases

HGNC Name

deleted in azoospermia 1

HGNC Alias Symbol

SPGY

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004081.7

p.V203delFs

c.607delC

Surrounding Variants

1 paper

NM_004081.7

p.A278delFs

c.832_833delGC

1 paper

NM_004081.7

p.V296A

c.887T>C

1 paper

NM_004081.7

p.Q320*

c.958C>T

1 paper

NM_004081.7

p.T322S

c.964A>T

1 paper

NM_004081.7

p.T322R

c.965C>G

1 paper

NM_004081.7

p.H123R

c.368A>G