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

Selected Variant

1 paper

NM_003625.5

p.R70*

c.208C>T

Surrounding Variants

1 paper

NM_003625.5

p.Y68N

c.202T>A

1 paper

NM_003625.5

p.D65Y

c.193G>T

1 paper

NM_003625.5

p.D65N

c.193G>A

1 paper

NM_003625.5

p.R75G

c.223A>G

1 paper

NM_003625.5

p.Q64P

c.191A>C

1 paper

NM_003625.5

p.L77delFs

c.229delG

1 paper

NM_003625.5

p.N78S

c.233A>G

1 paper

NM_003625.5

p.Q61K

c.181C>A

1 paper

NM_003625.5

p.T52N

c.155C>A

1 paper

NM_003625.5

p.T48N

c.143C>A

1 paper

NM_003625.5

p.D47delFs

c.141delG

2 papers

NM_003625.5

p.R44H

c.131G>A