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.A638T

c.1912G>A

Surrounding Variants

1 paper

NM_003626.5

p.I643V

c.1927A>G

1 paper

NM_003626.5

p.A625T

c.1873G>A

1 paper

NM_003626.5

p.A657A

c.1971A>G

1 paper

NM_003626.5

p.N671S

c.2012A>G

1 paper

NM_003626.5

p.I681S

c.2042T>G

1 paper

NM_003626.5

p.P695L

c.2084C>T

1 paper

NM_003626.5

p.P706_H707del2

c.2116_2120del6

2 papers

NM_003626.5

p.R711W

c.2131C>T

1 paper

NM_003626.5

p.R559W

c.1675C>T

1 paper

NM_003626.5

p.H542insFs

c.1624dupC

1 paper

NM_003626.5

p.Q499L

c.1496A>T

1 paper

NM_003626.5

p.E460G

c.1379A>G