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.A8A

c.24G>A

Surrounding Variants

1 paper

NM_003621.5

p.H7Y

c.19C>T

1 paper

NM_003621.5

p.S6del1

c.16_18delAGT

1 paper

NM_003621.5

p.E14Q

c.40G>C

1 paper

NM_003621.5

p.M16_G18del3

c.46_53del9

1 paper

NM_003621.5

p.A21T

c.61G>A