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.D100Y

c.298G>T

Surrounding Variants

1 paper

NM_003622.4

p.R105M

c.314G>T

1 paper

NM_003622.4

p.R108C

c.322C>T

1 paper

NM_003622.4

p.L116L

c.348C>T

1 paper

NM_003622.4

p.V117I

c.349G>A

1 paper

NM_003622.4

p.K133N

c.399G>C

1 paper

NM_003622.4

p.K133N

c.399G>T

5 papers

NM_003622.4

p.R135*

c.403C>T

1 paper

NM_003622.4

p.R135R

c.405A>T

1 paper

NM_003622.4

p.E138K

c.412G>A

4 papers

NM_003622.4

p.V148L

c.442G>C

5 papers

NM_003622.4

p.V148L

c.442G>T

1 paper

NM_003622.4

p.Q156*

c.466C>T