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.M884T

c.2651T>C

Surrounding Variants

1 paper

NM_001304331.2

p.S888L

c.2663C>T

1 paper

NM_001304331.2

p.V878I

c.2632G>A

1 paper

NM_001304331.2

p.V871V

c.2613G>T

1 paper

NM_001304331.2

p.P924P

c.2772C>A

1 paper

NM_001304331.2

p.Q836_E839del4

c.2506_2516del12

3 papers

NM_001304331.2

p.A825S

c.2473G>T

1 paper

NM_001304331.2

p.Q793H

c.2379G>T

1 paper

NM_001304331.2

p.T1001S

c.3001A>T

1 paper

NM_001304331.2

p.T1001S

c.3002C>G

1 paper

NM_001304331.2

p.N710N

c.2130C>T

1 paper

NM_001304331.2

p.R707Q

c.2120G>A

1 paper

NM_001304331.2

p.R676L

c.2027G>T