Varaico: Literature-Extracted Genetic Variants

PPFIBP1

12p11.23-p11.22 (UCSC)OMIM PanelApp GTEx

76 papers

RefSeq Summary

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine ...

Pfam Domains

CC_Liprin_betaaa 103–209UCSCLiprin beta, coiled-coil domain

SAM_1aa 645–709UCSCSAM domain (Sterile alpha motif)

SAM_1aa 718–780UCSCSAM domain (Sterile alpha motif)

SAM_2aa 804–874UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFIB scaffold protein 1

HGNC Alias Symbols

L2; hSGT2; hSgt2p; SGT2; liprin-beta1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003622.4

p.E66*

c.196G>T

Surrounding Variants

1 paper

NM_003622.4

p.C72F

c.215G>T

1 paper

NM_003622.4

p.T81T

c.243G>A

1 paper

NM_003622.4

p.W85*

c.254G>A

1 paper

NM_003622.4

p.W85*

c.255G>A

1 paper

NM_003622.4

p.Q36H

c.108A>C

1 paper

NM_003622.4

p.Q36H

c.108A>T

1 paper

NM_003622.4

p.D34N

c.100G>A

1 paper

NM_003622.4

p.Q15*

c.43C>T

2 papers

NM_003622.4

p.A12V

c.35C>T

1 paper

NM_003622.4

p.A12S

c.34G>T