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.N239D

c.715A>G

Surrounding Variants

1 paper

NM_001304331.2

p.K279_H280delFs

c.836_839del4

1 paper

NM_001304331.2

p.K279fs

c.835_836fs

1 paper

NM_001304331.2

p.R334L

c.1001G>T

1 paper

NM_001304331.2

p.R203R

c.609G>T

1 paper

NM_001304331.2

p.R203Q

c.608G>A

1 paper

NM_001304331.2

p.V202L

c.604G>C

1 paper

NM_001304331.2

p.V202L

c.604G>T

1 paper

NM_001304331.2

p.A195V

c.584C>T

1 paper

NM_001304331.2

p.E338V

c.1013A>T

1 paper

NM_001304331.2

p.R341*

c.1021C>T

1 paper

NM_001304331.2

p.P365L

c.1094C>T

1 paper

NM_001304331.2

p.T180I

c.539C>T