Varaico: Literature-Extracted Genetic Variants

PGAP1

100 papers

RefSeq Summary

The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the pro...

Pfam Domains

PGAP1aa 82–302UCSCPGAP1-like alpha/beta domain

PGAP1_2ndaa 349–457UCSCGPI inositol-deacylase beta-sandwich domain

Gene Aliases

HGNC Name

post-GPI attachment to proteins inositol deacylase 1

HGNC Alias Symbols

FLJ12377; SPG67

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_024989.4

p.Y524*

c.1572T>G

Surrounding Variants

5 papers

NM_024989.4

p.Y524*

c.1572T>A

1 paper

NM_024989.4

p.Y524C

c.1571A>G

1 paper

NM_024989.4

p.I520V

c.1558A>G

1 paper

NM_024989.4

p.E518Splc

c.1553-4A>G

1 paper

NM_024989.4

p.S543T

c.1627T>A

2 papers

NM_024989.4

p.V516_K517delFs

c.1546_1549del4

1 paper

NM_024989.4

p.L564S

c.1691T>C

4 papers

NM_024989.4

p.F565C

c.1694T>G

1 paper

NM_024989.4

p.N508N

c.1524C>T

1 paper

NM_024989.4

p.E576_V577Splc

c.1728+2T>C

2 papers

NM_024989.4

p.Q500_I501Splc

c.1501-2A>G

1 paper

NM_024989.4

p.G499E

c.1496G>A