Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF

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
1–12 of 176 variants
11 papers
NM_005142.3
p.M97T
c.290T>C
10 papers
NM_005142.3
p.C103Y
c.308G>A
7 papers
NM_005142.3
p.S27Splc
c.79+1G>A
7 papers
NM_005142.3
p.M61_N62delFs
c.183_186del4
5 papers
NM_005142.3
p.Q23R
c.68A>G
5 papers
NM_005142.3
p.S46L
c.137C>T
5 papers
NM_005142.3
p.M61fs
c.181_182fs
5 papers
NM_005142.3
p.P273P
c.819T>C
4 papers
NM_005142.3
p.F4L
c.10T>C
3 papers
NM_005142.3
p.K145_N146del1
c.435_437delTTC
3 papers
NM_005142.3
p.L198M
c.592C>A
3 papers
NM_005142.3
p.A229T
c.685G>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."