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.P793T

c.2377C>A

Surrounding Variants

1 paper

NM_003660.4

p.L805L

c.2413C>T

3 papers

NM_003660.4

p.R784W

c.2350C>T

1 paper

NM_003660.4

p.K759R

c.2276A>G

2 papers

NM_003660.4

p.I870N

c.2609T>A

1 paper

NM_003660.4

p.I885delFs

c.2654delT

2 papers

NM_003660.4

p.H890Y

c.2668C>T

1 paper

NM_003660.4

p.M901V

c.2701A>G

1 paper

NM_003660.4

p.V902insFs

c.2706dupC

1 paper

NM_003660.4

p.S903fs

c.2707_2708fs

1 paper

NM_003660.4

p.S903L

c.2708C>T

2 papers

NM_003660.4

p.S906L

c.2717C>T

1 paper

NM_003660.4

p.S913C

c.2738C>G