Varaico: Literature-Extracted Genetic Variants

PPFIA3

94 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 231–482UCSCLiprin-alpha-like coiled coil domain 2

SAM_1aa 836–901UCSCSAM domain (Sterile alpha motif)

SAM_1aa 951–1015UCSCSAM domain (Sterile alpha motif)

SAM_2aa 1038–1108UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFI scaffold protein A3

HGNC Alias Symbols

KIAA0654; LPNA3; MGC126567; MGC126569

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003660.4

p.G548G

c.1644G>T

Surrounding Variants

3 papers

NM_003660.4

p.W546C

c.1638G>C

3 papers

NM_003660.4

p.W546C

c.1638G>T

1 paper

NM_003660.4

p.E551K

c.1651G>A

1 paper

NM_003660.4

p.R545H

c.1634G>A

1 paper

NM_003660.4

p.K542fs

c.1624_1625fs

1 paper

NM_003660.4

p.K542delFs

c.1625delA

1 paper

NM_003660.4

p.D556V

c.1667A>T

2 papers

NM_003660.4

p.R559W

c.1675C>T

1 paper

NM_003660.4

p.P562A

c.1684C>G

1 paper

NM_003660.4

p.A563V

c.1688C>T

1 paper

NM_003660.4

p.G595A

c.1784G>C

1 paper

NM_003660.4

p.M605I

c.1815G>A