Varaico: Literature-Extracted Genetic Variants

ZP2

90 papers

RefSeq Summary

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation developm...

Pfam Domains

Ig_ZP2_Naa 51–123UCSCZona pellucida sperm-binding protein 2, Ig-like domain

Ig_ZP2aa 140–266UCSCZona pellucida sperm-binding protein 2, Ig-like domain

Ig_ZP2_3rdaa 268–360UCSCZona pellucida sperm-binding protein 2, Ig-like domain

ZP-Naa 372–468UCSCZP-N domain

Zona_pellucidaaa 489–631UCSCZP-C domain

Gene Aliases

HGNC Name

zona pellucida glycoprotein 2

HGNC Alias Symbol

ZPA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001376232.1

p.P249P

c.747T>C

Surrounding Variants

1 paper

NM_001376232.1

p.G250_V253del4

c.748_758del12

1 paper

NM_001376232.1

p.S257L

c.770C>T

2 papers

NM_001376232.1

p.I260V

c.778A>G

1 paper

NM_001376232.1

p.P265P

c.795T>C

1 paper

NM_001376232.1

p.T267I

c.800C>T

3 papers

NM_001376232.1

p.E279fs

c.835_836fs

2 papers

NM_001376232.1

p.E279delFs

c.836_837delCT

1 paper

NM_001376232.1

p.G282E

c.845G>A

4 papers

NM_001376232.1

p.V287fs

c.859_860fs

7 papers

NM_001376232.1

p.V287delFs

c.860_861delCA

1 paper

NM_001376232.1

p.Q292*

c.874C>T

1 paper

NM_001376232.1

p.T319insFs

c.956_957insA