Varaico: Literature-Extracted Genetic Variants

IZUMO1

38 papers

RefSeq Summary

The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by O...

Pfam Domains

IZUMOaa 21–165UCSCIzumo sperm-egg fusion, Ig domain-associated

Izumo-Igaa 168–255UCSCIzumo-like Immunoglobulin domain

Gene Aliases

HGNC Name

izumo sperm-oocyte fusion 1

HGNC Alias Symbols

MGC34799; OBF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_182575.3

p.A333delins

c.998_999delinsTT

Surrounding Variants

7 papers

NM_182575.3

p.A333V

c.998C>T

1 paper

NM_182575.3

p.R314C

c.940C>T

1 paper

NM_182575.3

p.S277Y

c.830C>A

1 paper

NM_182575.3

p.E271K

c.811G>A

1 paper

NM_182575.3

p.S263Y

c.788C>A

1 paper

NM_182575.3

p.K220delins

c.659_660delinsTT

1 paper

NM_182575.3

p.K214fs

c.640_641fs

1 paper

NM_182575.3

p.S211Y

c.632C>A

1 paper

NM_182575.3

p.Q188K

c.562C>A

1 paper

NM_182575.3

p.N185D

c.553A>G

1 paper

NM_182575.3

p.L184*

c.551T>A

1 paper

NM_182575.3

p.R168Q

c.503G>A