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.L256F

c.768G>C

Surrounding Variants

1 paper

NM_003622.4

p.Q253K

c.757C>A

1 paper

NM_003622.4

p.R270T

c.809G>C

1 paper

NM_003622.4

p.D233D

c.699T>C

1 paper

NM_003622.4

p.N208I

c.623A>T

1 paper

NM_003622.4

p.I207I

c.621C>T

1 paper

NM_003622.4

p.E280insFs

c.839dupA

1 paper

NM_003622.4

p.N282Splc

c.845-3C>A

1 paper

NM_003622.4

p.N282fs

c.844_845fs

1 paper

NM_003622.4

p.K302_D303Splc

c.906+1G>A

1 paper

NM_003622.4

p.R315K

c.944G>A

2 papers

NM_003622.4

p.Q320_D321delFs

c.960_961delAG

1 paper

NM_003622.4

p.V324L

c.970G>C