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.R678H

c.2033G>A

Surrounding Variants

1 paper

NM_003660.4

p.D690N

c.2068G>A

1 paper

NM_003660.4

p.T661P

c.1981A>C

1 paper

NM_003660.4

p.S658F

c.1973C>T

1 paper

NM_003660.4

p.L655Q

c.1964T>A

1 paper

NM_003660.4

p.R648H

c.1943G>A

1 paper

NM_003660.4

p.P715Q

c.2144C>A

1 paper

NM_003660.4

p.R720H

c.2159G>A

1 paper

NM_003660.4

p.L724L

c.2172T>C

1 paper

NM_003660.4

p.R726I

c.2177G>T

1 paper

NM_003660.4

p.L731F

c.2193G>C

1 paper

NM_003660.4

p.L731F

c.2193G>T

1 paper

NM_003660.4

p.M605I

c.1815G>A