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.E568K

c.1702G>A

Surrounding Variants

1 paper

NM_003621.5

p.D569E

c.1707C>G

1 paper

NM_003621.5

p.E600D

c.1800G>C

1 paper

NM_003621.5

p.E600D

c.1800G>T

1 paper

NM_003621.5

p.L629P

c.1886T>C

1 paper

NM_003621.5

p.L630P

c.1889T>C

1 paper

NM_003621.5

p.R703W

c.2107C>T

1 paper

NM_003621.5

p.R775C

c.2323C>T

1 paper

NM_003621.5

p.Q791H

c.2373G>C

1 paper

NM_003621.5

p.Q791H

c.2373G>T

2 papers

NM_003621.5

p.G822R

c.2464G>A

1 paper

NM_003621.5

p.G822R

c.2464G>C

1 paper

NM_003621.5

p.I824fs

c.2470_2471fs