Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.K213E

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.K213E
c.637A>G
Surrounding Variants
1 paper
NM_005142.3
p.I214F
c.640A>T
1 paper
NM_005142.3
p.I214I
c.642C>T
1 paper
NM_005142.3
p.I219F
c.655A>T
1 paper
NM_005142.3
p.K204_D205del2
c.610_614del6
2 papers
NM_005142.3
p.I220T
c.659T>C
1 paper
NM_005142.3
p.I220del1
c.658_660delAAT
1 paper
NM_005142.3
p.K204R
c.611A>G
1 paper
NM_005142.3
p.D222G
c.665A>G
1 paper
NM_005142.3
p.L203I
c.607C>A
2 papers
NM_005142.3
p.S225R
c.673A>C
1 paper
NM_005142.3
p.S225R
c.675T>G
1 paper
NM_005142.3
p.S225R
c.675T>A
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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."