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

1–12 of 62 variants

11 papers

NM_014489.4

p.R16W

c.46C>T

8 papers

NM_014489.4

p.M1R

c.2T>G

5 papers

NM_001256240.2

p.Y99C

c.296A>G

4 papers

NM_014489.4

p.A64V

c.191C>T

4 papers

NM_001256240.2

p.R74H

c.221G>A

4 papers

NM_001256240.2

p.R177P

c.530G>C

4 papers

NM_001256240.2

p.T233M

c.698C>T

4 papers

NM_014489.4

p.T294M

c.881C>T

3 papers

NM_014489.4

p.L35delFs

c.103delC

3 papers

NM_001256240.2

p.L127S

c.380T>C

3 papers

NM_001256240.2

p.T160I

c.479C>T

3 papers

NM_014489.4

p.R238P

c.713G>C