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

6 papers

NM_001256240.2

p.R177P

c.530G>C

NM_014489.4

p.R238P

c.713G>C

Surrounding Variants

3 papers

NM_001256240.2

p.R185Q

c.554G>A

1 paper

NM_001256240.2

p.I188T

c.563T>C

1 paper

NM_014489.4

p.S254_F255del1

c.761_763delCCT

1 paper

NM_001256240.2

p.A197V

c.590C>T

1 paper

NM_014489.4

p.T275A

c.823A>G

1 paper

NM_001256240.2

p.T226I

c.677C>T

1 paper

NM_001256240.2

p.A229V

c.686C>T

7 papers

NM_001256240.2

p.T233M

c.698C>T

NM_014489.4

p.T294M

c.881C>T

1 paper

NM_014489.4

p.D298G

c.893A>G

1 paper

NM_014489.4

p.S308Y

c.923C>A

1 paper

NM_014489.4

p.R226Q

c.677G>A

2 papers

NM_001256240.2

p.R165W

c.493C>T

NM_014489.4

p.R226W

c.676C>T