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.Q415E

c.1243C>G

Surrounding Variants

1 paper

NM_003625.5

p.L413Q

c.1238T>A

1 paper

NM_003625.5

p.E404K

c.1210G>A

1 paper

NM_003625.5

p.R401*

c.1201A>T

1 paper

NM_003625.5

p.Q398K

c.1192C>A

1 paper

NM_003625.5

p.E380D

c.1140G>T

1 paper

NM_003625.5

p.E380D

c.1140G>C

1 paper

NM_003625.5

p.N366S

c.1097A>G

1 paper

NM_003625.5

p.K363E

c.1087A>G

1 paper

NM_003625.5

p.Q351H

c.1053G>T

1 paper

NM_003625.5

p.Q351H

c.1053G>C

1 paper

NM_003625.5

p.A350S

c.1048G>T

1 paper

NM_003625.5

p.R346H

c.1037G>A