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.H1076Q

c.3228T>G

Surrounding Variants

1 paper

NM_001304331.2

p.H1076Q

c.3228T>A

1 paper

NM_001304331.2

p.A1072T

c.3214G>A

1 paper

NM_001304331.2

p.Q1105E

c.3313C>G

1 paper

NM_001304331.2

p.R1041L

c.3122G>T

1 paper

NM_001304331.2

p.Q1108_A1109Splc

c.3325-4G>C

1 paper

NM_001304331.2

p.T1001S

c.3002C>G

1 paper

NM_001304331.2

p.T1001S

c.3001A>T

1 paper

NM_001304331.2

p.G1156S

c.3466G>A

1 paper

NM_001304331.2

p.M1158T

c.3473T>C

1 paper

NM_001304331.2

p.R1171C

c.3511C>T

1 paper

NM_001304331.2

p.S1194C

c.3581C>G

1 paper

NM_001304331.2

p.P924P

c.2772C>A