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.E834K

c.2500G>A

Surrounding Variants

1 paper

NM_003626.5

p.K847_K857del11

c.2539_2570del33

1 paper

NM_003626.5

p.L848F

c.2544G>C

1 paper

NM_003626.5

p.L848F

c.2544G>T

1 paper

NM_003626.5

p.Q851H

c.2553G>C

1 paper

NM_003626.5

p.Q851H

c.2553G>T

1 paper

NM_003626.5

p.Q821H

c.2463A>C

1 paper

NM_003626.5

p.Q821H

c.2463A>T

1 paper

NM_003626.5

p.H795L

c.2384A>T

1 paper

NM_003626.5

p.V762I

c.2284G>A

2 papers

NM_003626.5

p.A758V

c.2273C>T

1 paper

NM_003626.5

p.P746R

c.2237C>G

1 paper

NM_003626.5

p.S745C

c.2234C>G