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

1–12 of 99 variants

5 papers

NM_003660.4

p.R415W

c.1243C>T

4 papers

NM_003660.4

p.R39C

c.115C>T

3 papers

NM_003660.4

p.A315S

c.943G>T

3 papers

NM_003660.4

p.W546C

c.1638G>C

3 papers

NM_003660.4

p.W546C

c.1638G>T

3 papers

NM_003660.4

p.R784W

c.2350C>T

2 papers

NM_003660.4

p.E40K

c.118G>A

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

2 papers

NM_003660.4

p.R255C

c.763C>T

2 papers

NM_003660.4

p.R429W

c.1285C>T