Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.S27S

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.S27S
c.81C>A
Surrounding Variants
1 paper
NM_005142.3
p.S27S
c.81C>T
1 paper
NM_005142.3
p.S27Y
c.80C>A
1 paper
NM_005142.3
p.S27Splc
c.80-1G>A
1 paper
NM_005142.3
p.Q32K
c.94C>A
1 paper
NM_005142.3
p.E33K
c.97G>A
1 paper
NM_005142.3
p.P34S
c.100C>T
1 paper
NM_005142.3
p.P34H
c.101C>A
1 paper
NM_005142.3
p.V36L
c.106G>C
1 paper
NM_005142.3
p.G38R
c.112G>C
1 paper
NM_005142.3
p.G38R
c.112G>A
1 paper
NM_005142.3
p.Q40K
c.118C>A
5 papers
NM_005142.3
p.S46L
c.137C>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."