Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.L87P

CBLIF

424 papers

RefSeq Summary

This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vita...

Pfam Domains

Cobalamin_bindaa 8–308UCSCEukaryotic cobalamin-binding protein

Gene Aliases

HGNC Name

cobalamin binding intrinsic factor

HGNC Previous Symbol

GIF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005142.3
p.L87P
c.260T>C
Surrounding Variants
1 paper
NM_005142.3
p.D86G
c.257A>G
1 paper
NM_005142.3
p.I89T
c.266T>C
2 papers
NM_005142.3
p.L92F
c.274C>T
1 paper
NM_005142.3
p.G93S
c.277G>A
1 paper
NM_005142.3
p.G93A
c.278G>C
1 paper
NM_005142.3
p.L94I
c.280C>A
11 papers
NM_005142.3
p.M97T
c.290T>C
1 paper
NM_005142.3
p.S102A
c.304T>G
10 papers
NM_005142.3
p.C103Y
c.308G>A
1 paper
NM_005142.3
p.P106T
c.316C>A
1 paper
NM_005142.3
p.Q116*
c.346C>T
1 paper
NM_005142.3
p.N119N
c.357C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."