Varaico: Literature-Extracted Genetic Variants

DAZ4

13 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

Dazaa 335–355UCSCDaz repeat

Dazaa 359–379UCSCDaz repeat

Dazaa 383–403UCSCDaz repeat

Dazaa 407–427UCSCDaz repeat

Gene Aliases

HGNC Name

deleted in azoospermia 4

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_001388484.1

p.K80I

c.239A>T

1 paper

NM_001388484.1

p.H123R

c.368A>G

1 paper

NM_001388484.1

p.V203delFs

c.607delG

1 paper

NM_001388484.1

p.A278delFs

c.832_833delGC

1 paper

NM_001388484.1

p.Q320*

c.958C>T

1 paper

NM_001388484.1

p.P358S

c.1072C>T

1 paper

NM_001388484.1

p.T359I

c.1076C>T

1 paper

NM_001388484.1

p.Q468_F469delFs

c.1403_1406del4

1 paper

NM_001388484.1

p.P556S

c.1666C>T

1 paper

NM_001388484.1

p.F645_P646delFs

c.1935_1936delTC

1 paper

NM_001388484.1

p.Q660_L661ins1

c.1980_1981insCGG