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.K682_E683Splc

c.2047-2A>T

Surrounding Variants

1 paper

NM_003622.4

p.L690F

c.2068C>T

1 paper

NM_003622.4

p.N716I

c.2147A>T

1 paper

NM_003622.4

p.R720Splc

c.2158+2T>C

1 paper

NM_003622.4

p.G726V

c.2177G>T

1 paper

NM_003622.4

p.T732I

c.2195C>T

1 paper

NM_003622.4

p.E736K

c.2206G>A

1 paper

NM_003622.4

p.H745Q

c.2235T>A

1 paper

NM_003622.4

p.H745Q

c.2235T>G

1 paper

NM_003622.4

p.V749L

c.2245G>C

1 paper

NM_001198915.2

p.P490S

c.1468C>T

1 paper

NM_003622.4

p.R620Q

c.1859G>A

1 paper

NM_001198915.2

p.R473_W476delFs

c.1417_1427del11