Varaico: Literature-Extracted Genetic Variants

PPFIA2

83 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

LIP-1aa 266–515UCSCLiprin-alpha-like coiled coil domain 2

SAM_1aa 896–961UCSCSAM domain (Sterile alpha motif)

SAM_1aa 1018–1082UCSCSAM domain (Sterile alpha motif)

SAM_2aa 1105–1175UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFI scaffold protein A2

HGNC Previous Names

PTPRF interacting protein alpha 2; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003625.5

p.D936A

c.2807A>C

Surrounding Variants

1 paper

NM_003625.5

p.Q940H

c.2820G>T

1 paper

NM_003625.5

p.Q940H

c.2820G>C

1 paper

NM_003625.5

p.S946R

c.2836A>C

1 paper

NM_003625.5

p.S946R

c.2838C>G

1 paper

NM_003625.5

p.S946R

c.2838C>A

1 paper

NM_003625.5

p.H950N

c.2848C>A

1 paper

NM_003625.5

p.R951H

c.2852G>A

1 paper

NM_003625.5

p.R955*

c.2863C>T

1 paper

NM_003625.5

p.R974*

c.2920C>T

1 paper

NM_003625.5

p.W906*

c.2718G>A

1 paper

NM_003625.5

p.W906*

c.2717G>A

1 paper

NM_003625.5

p.K891N

c.2673G>T