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

1–12 of 23 variants

10 papers

NM_001446.5

p.T61M

c.182C>T

4 papers

NM_001446.5

p.K22Q

c.64A>C

3 papers

NM_001446.5

p.V126L

c.376G>C

2 papers

NM_001446.5

p.V26M

c.76G>A

1 paper

NM_001446.5

p.E3G

c.8A>G

1 paper

NM_001446.5

p.K22K

c.66G>A

1 paper

NM_001446.5

p.R31R

c.93G>A

1 paper

NM_001446.5

p.P39A

c.115C>G

1 paper

NM_001446.5

p.Q45delins

c.134delinsT

1 paper

NM_001446.5

p.E62G

c.185A>G

1 paper

NM_001446.5

p.T75P

c.223A>C

1 paper

NM_001446.5

p.A76G

c.227C>G