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.M985T

c.2954T>C

Surrounding Variants

1 paper

NM_003626.5

p.G976C

c.2926G>T

1 paper

NM_003626.5

p.L997F

c.2991G>C

1 paper

NM_003626.5

p.L997F

c.2991G>T

1 paper

NM_003626.5

p.R1003*

c.3007C>T

1 paper

NM_003626.5

p.E1035K

c.3103G>A

1 paper

NM_003626.5

p.L1049F

c.3145C>T

1 paper

NM_003626.5

p.R1058H

c.3173G>A

1 paper

NM_003626.5

p.L1081R

c.3242T>G

1 paper

NM_003626.5

p.T1101M

c.3302C>T

1 paper

NM_003626.5

p.A1108S

c.3322G>T

2 papers

NM_003626.5

p.R1124_R1125del1

c.3372_3374delAAG

2 papers

NM_003626.5

p.R1125del1

c.3373_3374delAGG