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

1 paper

NM_003626.5

p.K236delFs

c.706_707delAA

Surrounding Variants

1 paper

NM_003626.5

p.D218Y

c.652G>T

1 paper

NM_003626.5

p.K213I

c.638A>T

1 paper

NM_003626.5

p.R237I

c.710G>T

1 paper

NM_003626.5

p.E246delFs

c.738delG

1 paper

NM_003626.5

p.E247fs

c.739_740fs

1 paper

NM_003626.5

p.R272C

c.814C>T

1 paper

NM_003626.5

p.R272H

c.815G>A

1 paper

NM_003626.5

p.L283_D286delFs

c.847_857del11

1 paper

NM_003626.5

p.K296R

c.887A>G

1 paper

NM_003626.5

p.E202V

c.605A>T

1 paper

NM_003626.5

p.C189*

c.567T>A

1 paper

NM_003626.5

p.K145R

c.434A>G