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

1 paper

NM_003660.4

p.E269A

c.806A>C

Surrounding Variants

1 paper

NM_003660.4

p.A273T

c.817G>A

1 paper

NM_003660.4

p.S264N

c.791G>A

2 papers

NM_003660.4

p.R255C

c.763C>T

1 paper

NM_003660.4

p.L209P

c.626T>C

1 paper

NM_003660.4

p.R205G

c.613C>G

1 paper

NM_003660.4

p.E200K

c.598G>A

1 paper

NM_003660.4

p.R171Q

c.512G>A

1 paper

NM_003660.4

p.E168K

c.502G>A

1 paper

NM_003660.4

p.K164N

c.492G>C

1 paper

NM_003660.4

p.K164N

c.492G>T

1 paper

NM_003660.4

p.M133T

c.398T>C

1 paper

NM_003660.4

p.L106M

c.316C>A