Varaico: Literature-Extracted Genetic Variants

PPFIA2

83 papers

RefSeq Summary

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine ...

Pfam Domains

LIP-1aa 266–515UCSCLiprin-alpha-like coiled coil domain 2

SAM_1aa 896–961UCSCSAM domain (Sterile alpha motif)

SAM_1aa 1018–1082UCSCSAM domain (Sterile alpha motif)

SAM_2aa 1105–1175UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFI scaffold protein A2

HGNC Previous Names

PTPRF interacting protein alpha 2; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 133 variants

2 papers

NM_003625.5

p.R44H

c.131G>A

2 papers

NM_003625.5

p.R255C

c.763C>T

2 papers

NM_003625.5

p.Q415E

c.1243C>G

2 papers

NM_003625.5

p.D936A

c.2807A>C

1 paper

NM_003625.5

p.M1V

c.1A>G

1 paper

NM_003625.5

p.T13S

c.37A>T

1 paper

NM_003625.5

p.T13S

c.38C>G

1 paper

NM_003625.5

p.H30P

c.89A>C

1 paper

NM_003625.5

p.Q33L

c.98A>T

1 paper

NM_003625.5

p.R44C

c.130C>T

1 paper

NM_003625.5

p.D47delFs

c.141delG

1 paper

NM_003625.5

p.T48N

c.143C>A