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.P91R

c.272C>G

Surrounding Variants

1 paper

NM_014489.4

p.I100V

c.298A>G

1 paper

NM_014489.4

p.T110M

c.329C>T

1 paper

NM_014489.4

p.D72fs

c.214_215fs

1 paper

NM_014489.4

p.D70insFs

c.210dupC

4 papers

NM_014489.4

p.A64V

c.191C>T

1 paper

NM_014489.4

p.A64S

c.190G>T

1 paper

NM_014489.4

p.T50M

c.149C>T

2 papers

NM_014489.4

p.H45R

c.134A>G

1 paper

NM_014489.4

p.L43L

c.129C>A

1 paper

NM_014489.4

p.L35fs

c.103_104fs

2 papers

NM_014489.4

p.L35fs

c.103_104fs

1 paper

NM_014489.4

p.L35_S41delFs

c.105_121del17