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.R226Q

c.677G>A

Surrounding Variants

2 papers

NM_001256240.2

p.R165W

c.493C>T

NM_014489.4

p.R226W

c.676C>T

3 papers

NM_001256240.2

p.T160I

c.479C>T

1 paper

NM_014489.4

p.H217Q

c.651C>A

1 paper

NM_014489.4

p.H217Q

c.651C>G

1 paper

NM_014489.4

p.G216R

c.646G>A

1 paper

NM_014489.4

p.G216R

c.646G>C

1 paper

NM_014489.4

p.I208T

c.623T>C

4 papers

NM_001256240.2

p.L127S

c.380T>C

NM_014489.4

p.L188S

c.563T>C

1 paper

NM_014489.4

p.A187V

c.560C>T

1 paper

NM_014489.4

p.G179G

c.537C>T

1 paper

NM_014489.4

p.N177S

c.530A>G

1 paper

NM_014489.4

p.R171C

c.511C>T