Varaico: Literature-Extracted Genetic Variants

PPFIBP2

44 papers

RefSeq Summary

This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse deve...

Pfam Domains

CC_Liprin_betaaa 108–214UCSCLiprin beta, coiled-coil domain

SAM_1aa 556–620UCSCSAM domain (Sterile alpha motif)

SAM_1aa 631–691UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFIB scaffold protein 2

HGNC Alias Symbol

Cclp1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003621.5

p.I54L

c.160A>C

Surrounding Variants

1 paper

NM_003621.5

p.S40fs

c.118_119fs

1 paper

NM_003621.5

p.S40delFs

c.119delC

1 paper

NM_003621.5

p.T81S

c.241A>T

1 paper

NM_003621.5

p.S92T

c.275G>C