Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.F157L

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.F157L
c.471T>A
Surrounding Variants
1 paper
NM_005142.3
p.F157L
c.471T>G
2 papers
NM_005142.3
p.F157L
c.469T>C
1 paper
NM_005142.3
p.L161V
c.481C>G
1 paper
NM_005142.3
p.A163T
c.487G>A
1 paper
NM_005142.3
p.A163D
c.488C>A
1 paper
NM_005142.3
p.N164T
c.491A>C
1 paper
NM_005142.3
p.S165F
c.494C>T
1 paper
NM_005142.3
p.T150delins
c.448_449delinsCC
1 paper
NM_005142.3
p.P167S
c.499C>T
1 paper
NM_005142.3
p.E148Q
c.442G>C
1 paper
NM_005142.3
p.Q144_N146delFs
c.431_438del8
3 papers
NM_005142.3
p.K145_N146del1
c.435_437delTTC
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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."