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

1–12 of 92 variants

5 papers

NM_003622.4

p.R135*

c.403C>T

5 papers

NM_003622.4

p.V148L

c.442G>T

4 papers

NM_003622.4

p.V148L

c.442G>C

3 papers

NM_001198915.2

p.E320_T321delFs

c.960_961delGA

3 papers

NM_003622.4

p.E456_T457delFs

c.1368_1369delGA

3 papers

NM_003622.4

p.E456fs

c.1366_1367fs

2 papers

NM_003622.4

p.A12V

c.35C>T

2 papers

NM_003622.4

p.Q320_D321delFs

c.960_961delAG

2 papers

NM_003622.4

p.E382_F383Splc

c.1146+1G>A

2 papers

NM_003622.4

p.Q434*

c.1300C>T

2 papers

NM_001198915.2

p.E320fs

c.958_959fs

2 papers

NM_003622.4

p.A473_E476delFs

c.1417_1427del11