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.A539S

c.1615G>T

Surrounding Variants

1 paper

NM_003622.4

p.L538I

c.1612C>A

1 paper

NM_003622.4

p.A535S

c.1603G>T

1 paper

NM_177444.3

p.A545Splc

c.1633+5G>A

1 paper

NM_003622.4

p.A522S

c.1564G>T

1 paper

NM_003622.4

p.G500D

c.1499G>A

3 papers

NM_003622.4

p.Q490*

c.1468C>T

NM_001198915.2

p.Q354*

c.1060C>T

2 papers

NM_003622.4

p.A473fs

c.1417_1418fs

2 papers

NM_003622.4

p.A473_E476delFs

c.1417_1427del11

1 paper

NM_003622.4

p.E542delins

c.1624_1625delinsTT

1 paper

NM_003622.4

p.S580F

c.1739C>T

1 paper

NM_003622.4

p.R591W

c.1771A>T

1 paper

NM_003622.4

p.D602H

c.1804G>C