Varaico: Literature-Extracted Genetic Variants

PGAP2

63 papers

RefSeq Summary

The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessiv...

Pfam Domains

Frag1aa 18–241UCSCFrag1/DRAM/Sfk1/Cwh43P N-terminal domain

Frag1aa 62–259UCSCFrag1/DRAM/Sfk1/Cwh43P N-terminal domain

Gene Aliases

HGNC Name

post-GPI attachment to proteins 2

HGNC Previous Symbols

MRT21; MRT17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014489.4

p.N177S

c.530A>G

Surrounding Variants

1 paper

NM_014489.4

p.G179G

c.537C>T

1 paper

NM_014489.4

p.R171C

c.511C>T

1 paper

NM_014489.4

p.A187V

c.560C>T

4 papers

NM_001256240.2

p.L127S

c.380T>C

NM_014489.4

p.L188S

c.563T>C

7 papers

NM_001256240.2

p.Y99C

c.296A>G

NM_014489.4

p.Y160C

c.479A>G

2 papers

NM_001256240.2

p.Y95C

c.284A>G

1 paper

NM_014489.4

p.F154L

c.462C>A

1 paper

NM_014489.4

p.F154L

c.462C>G

1 paper

NM_014489.4

p.F154L

c.460T>C

2 papers

NM_014489.4

p.F150L

c.450C>A

2 papers

NM_014489.4

p.F150L

c.450C>G

2 papers

NM_014489.4

p.F150L

c.448T>C