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

1 paper

NM_182575.3

p.S35_G43delFs

c.105_129del25

Surrounding Variants

1 paper

NM_182575.3

p.L33L

c.99A>G

1 paper

NM_182575.3

p.A11V

c.32C>T

1 paper

NM_182575.3

p.M1del1

c.1_2delCAT

1 paper

NM_182575.3

p.Q84_K85delFs

c.250_253del4

1 paper

NM_182575.3

p.F107L

c.319T>C

1 paper

NM_182575.3

p.F107L

c.321C>G

1 paper

NM_182575.3

p.F107L

c.321C>A

1 paper

NM_182575.3

p.A133Splc

c.397+1G>A

1 paper

NM_182575.3

p.V156I

c.466G>A

1 paper

NM_182575.3

p.A158P

c.472G>C

1 paper

NM_182575.3

p.C159delins

c.476_477delinsTT

1 paper

NM_182575.3

p.R168W

c.502C>T