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.E420K

c.1258G>A

Surrounding Variants

2 papers

NM_003660.4

p.R429W

c.1285C>T

1 paper

NM_003660.4

p.L456_E457delFs

c.1368_1369delGG

5 papers

NM_003660.4

p.R415W

c.1243C>T

1 paper

NM_003660.4

p.Q414*

c.1240C>T

1 paper

NM_003660.4

p.Q473_L476delFs

c.1417_1427del11

1 paper

NM_003660.4

p.T364T

c.1092G>A

1 paper

NM_003660.4

p.Q491H

c.1473G>C

1 paper

NM_003660.4

p.L497V

c.1489C>G

1 paper

NM_003660.4

p.Q342_S343Splc

c.1027-30G>A

2 papers

NM_003660.4

p.R498W

c.1492C>T

1 paper

NM_003660.4

p.R498Q

c.1493G>A

3 papers

NM_003660.4

p.A315S

c.943G>T