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

Selected Variant

1 paper

NM_001304331.2

p.R422Q

c.1265G>A

Surrounding Variants

1 paper

NM_001304331.2

p.D418E

c.1254C>A

1 paper

NM_001304331.2

p.E413*

c.1237G>T

1 paper

NM_001304331.2

p.S432S

c.1296C>T

1 paper

NM_001304331.2

p.R410C

c.1228C>T

1 paper

NM_001304331.2

p.H441Y

c.1321C>T

1 paper

NM_001304331.2

p.R408_V409Splc

c.1224+41G>T

1 paper

NM_001304331.2

p.E467*

c.1399G>T

1 paper

NM_001304331.2

p.H472Y

c.1414C>T

1 paper

NM_001304331.2

p.R393Q

c.1178G>A

1 paper

NM_001304331.2

p.R393W

c.1177C>T

1 paper

NM_001304331.2

p.P365L

c.1094C>T

1 paper

NM_001304331.2

p.R341*

c.1021C>T