Varaico: Literature-Extracted Genetic Variants

FABP7

56 papers

RefSeq Summary

The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial...

Pfam Domains

Lipocalinaa 7–132UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

fatty acid binding protein 7

HGNC Alias Symbols

B-FABP; BLBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001446.5

p.R127delFs

c.379delC

Surrounding Variants

1 paper

NM_001446.5

p.R127insFs

c.379_380insC

1 paper

NM_001446.5

p.R127fs

c.379_380fs

3 papers

NM_001446.5

p.V126L

c.376G>C

1 paper

NM_001446.5

p.Y129F

c.386A>T

1 paper

NM_001446.5

p.M116_T117Splc

c.348+21A>G

1 paper

NM_001446.5

p.W98R

c.292T>C

1 paper

NM_001446.5

p.Q96Q

c.288G>A

1 paper

NM_001446.5

p.S86G

c.256A>G

1 paper

NM_001446.5

p.V85G

c.254T>G

1 paper

NM_001446.5

p.N80fs

c.238_239fs

1 paper

NM_001446.5

p.N80delFs

c.239delA

1 paper

NM_001446.5

p.A76G

c.227C>G