Varaico: Literature-Extracted Genetic Variants

PPFIA1

88 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 248–497UCSCLiprin-alpha-like coiled coil domain 2

SAM_1aa 961–1025UCSCSAM domain (Sterile alpha motif)

SAM_2aa 1048–1118UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

PPFI scaffold protein A1

HGNC Alias Symbols

LIP.1; LIPRIN

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

4 papers

NM_003626.5

p.V71I

c.211G>A

2 papers

NM_003626.5

p.L330F

c.988C>T

2 papers

NM_003626.5

p.R711W

c.2131C>T

2 papers

NM_003626.5

p.A758V

c.2273C>T

2 papers

NM_003626.5

p.E834K

c.2500G>A

2 papers

NM_003626.5

p.M985T

c.2954T>C

2 papers

NM_003626.5

p.R1124_R1125del1

c.3372_3374delAAG

2 papers

NM_003626.5

p.R1125del1

c.3373_3374delAGG

1 paper

NM_003626.5

p.M1K

c.2T>A

1 paper

NM_003626.5

p.E11A

c.32A>C

1 paper

NM_003626.5

p.G18R

c.52G>A

1 paper

NM_003626.5

p.G18R

c.52G>C