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.F34S

c.101T>C

Surrounding Variants

3 papers

NM_014489.4

p.L35delFs

c.103delC

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

1 paper

NM_014489.4

p.L43L

c.129C>A

2 papers

NM_014489.4

p.H45R

c.134A>G

1 paper

NM_014489.4

p.A23V

c.68C>T

1 paper

NM_014489.4

p.V22V

c.66G>C

1 paper

NM_014489.4

p.T50M

c.149C>T

11 papers

NM_014489.4

p.R16W

c.46C>T

8 papers

NM_014489.4

p.M1R

c.2T>G

1 paper

NM_014489.4

p.M1V

c.1A>G