Varaico: Literature-Extracted Genetic Variants

PPFIA3

94 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 231–482UCSCLiprin-alpha-like coiled coil domain 2

SAM_1aa 836–901UCSCSAM domain (Sterile alpha motif)

SAM_1aa 951–1015UCSCSAM domain (Sterile alpha motif)

SAM_2aa 1038–1108UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFI scaffold protein A3

HGNC Alias Symbols

KIAA0654; LPNA3; MGC126567; MGC126569

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003660.4

p.E40K

c.118G>A

Surrounding Variants

4 papers

NM_003660.4

p.R39C

c.115C>T

1 paper

NM_003660.4

p.E38Q

c.112G>C

1 paper

NM_003660.4

p.T34T

c.102G>A

1 paper

NM_003660.4

p.E48Q

c.142G>C

1 paper

NM_003660.4

p.D51N

c.151G>A

1 paper

NM_003660.4

p.L63P

c.188T>C

1 paper

NM_003660.4

p.R14Q

c.41G>A

1 paper

NM_003660.4

p.M1insFs

c.1_2ins4

2 papers

NM_003660.4

p.Q80P

c.239A>C

2 papers

NM_003660.4

p.Q80L

c.239A>T

2 papers

NM_003660.4

p.Q80_E81Splc

c.240+1G>A

1 paper

NM_003660.4

p.E81V

c.242A>T