Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.S46W

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.S46W
c.137C>G
Surrounding Variants
5 papers
NM_005142.3
p.S46L
c.137C>T
1 paper
NM_005142.3
p.Q40K
c.118C>A
1 paper
NM_005142.3
p.P53P
c.159A>T
1 paper
NM_005142.3
p.P53delFs
c.158delG
1 paper
NM_005142.3
p.N54insFs
c.160_161insCT
1 paper
NM_005142.3
p.G38R
c.112G>C
1 paper
NM_005142.3
p.G38R
c.112G>A
2 papers
NM_005142.3
p.N54fs
c.160_161fs
1 paper
NM_005142.3
p.N54delFs
c.161delT
1 paper
NM_005142.3
p.V36L
c.106G>C
1 paper
NM_005142.3
p.P34H
c.101C>A
1 paper
NM_005142.3
p.L58L
c.174G>C
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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."