Varaico: Literature-Extracted Genetic Variants

Gene:RBP4
Variant:p.K117E

RBP4

331 papers

RefSeq Summary

This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, t...

Pfam Domains

Lipocalinaa 39–185UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

retinol binding protein 4

HGNC Previous Name

retinol-binding protein 4, plasma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006744.4
p.K117E
c.349A>G
Surrounding Variants
1 paper
NM_006744.4
p.Y108_K117Fs
c.323_349delinsGFs
2 papers
NM_006744.4
p.Q116H
c.348G>C
1 paper
NM_006744.4
p.G118R
c.352G>A
1 paper
NM_006744.4
p.M106_V111del6
c.316_332del18
1 paper
NM_006744.4
p.G110R
c.328G>C
1 paper
NM_006744.4
p.G110S
c.328G>A
1 paper
NM_006744.4
p.Y108*
c.324C>G
1 paper
NM_006744.4
p.Y108*
c.324C>A
1 paper
NM_006744.4
p.Y108F
c.323A>T
1 paper
NM_006744.4
p.K105*
c.313A>T
1 paper
NM_006744.4
p.K105E
c.313A>G
2 papers
NM_006744.4
p.F104L
c.310T>C
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