Varaico: Literature-Extracted Genetic Variants

PPFIA4

69 papers

RefSeq Summary

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008].

Pfam Domains

LIP-1aa 224–473UCSCLiprin-alpha-like coiled coil domain 2

SAM_1aa 849–914UCSCSAM domain (Sterile alpha motif)

SAM_1aa 964–1028UCSCSAM domain (Sterile alpha motif)

SAM_2aa 1051–1121UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFI scaffold protein A4

HGNC Previous Names

PTPRF interacting protein alpha 4; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

3 papers

NM_001304331.2

p.A825S

c.2473G>T

2 papers

NM_001304331.2

p.R108W

c.322C>T

2 papers

NM_001304331.2

p.L154P

c.461T>C

1 paper

NM_001304331.2

p.N9fs

c.25_26fs

1 paper

NM_001304331.2

p.N9_L14delFs

c.27_40del14

1 paper

NM_001304331.2

p.R13C

c.37C>T

1 paper

NM_001304331.2

p.R13P

c.38G>C

1 paper

NM_001304331.2

p.E27_L40del14

c.79_119del42

1 paper

NM_001304331.2

p.M33R

c.98T>G

1 paper

NM_001304331.2

p.L34M

c.100C>A

1 paper

NM_001304331.2

p.D35Y

c.103G>T

1 paper

NM_001304331.2

p.S43T

c.127T>A