Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.P239P

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.P239P
c.717A>G
Surrounding Variants
1 paper
NM_005142.3
p.L233L
c.699C>T
1 paper
NM_005142.3
p.N245K
c.735C>G
1 paper
NM_005142.3
p.N245K
c.735C>A
1 paper
NM_005142.3
p.K247K
c.741G>A
1 paper
NM_005142.3
p.K248E
c.742A>G
1 paper
NM_005142.3
p.N255S
c.764A>G
1 paper
NM_005142.3
p.C246_L254del0
c.738_761del24
1 paper
NM_005142.3
p.Q259fs
c.775_776fs
1 paper
NM_005142.3
p.Q259R
c.776A>G
1 paper
NM_005142.3
p.Q259delFs
c.776delT
5 papers
NM_005142.3
p.P273P
c.819T>C
1 paper
NM_005142.3
p.S274insFs
c.820_821insG
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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."