Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.L198M

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
3 papers
NM_005142.3
p.L198M
c.592C>A
Surrounding Variants
2 papers
NM_005142.3
p.S197F
c.590C>T
1 paper
NM_005142.3
p.Y195*
c.585C>G
1 paper
NM_005142.3
p.Y195*
c.585C>A
1 paper
NM_005142.3
p.L203I
c.607C>A
1 paper
NM_005142.3
p.K204R
c.611A>G
1 paper
NM_005142.3
p.K204_D205del2
c.610_614del6
1 paper
NM_005142.3
p.M183_K186del4
c.547_557del12
1 paper
NM_005142.3
p.K213E
c.637A>G
1 paper
NM_005142.3
p.C182R
c.544T>C
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.L178F
c.534G>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."