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

Selected Variant

2 papers

NM_003626.5

p.L330F

c.988C>T

Surrounding Variants

1 paper

NM_003626.5

p.R328C

c.982C>T

1 paper

NM_003626.5

p.D317H

c.949G>C

1 paper

NM_003626.5

p.E349K

c.1045G>A

1 paper

NM_003626.5

p.M356V

c.1066A>G

1 paper

NM_003626.5

p.H357R

c.1070A>G

1 paper

NM_003626.5

p.R365C

c.1093C>T

1 paper

NM_003626.5

p.P389Q

c.1166C>A

1 paper

NM_003626.5

p.P389L

c.1166C>T

1 paper

NM_003626.5

p.G410V

c.1229G>T

1 paper

NM_003626.5

p.E420K

c.1258G>A

1 paper

NM_003626.5

p.K296R

c.887A>G

1 paper

NM_003626.5

p.L283_D286delFs

c.847_857del11