Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.T150delins

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.T150delins
c.448_449delinsCC
Surrounding Variants
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
1 paper
NM_005142.3
p.N146I
c.437A>T
1 paper
NM_005142.3
p.Q144fs
c.430_431fs
1 paper
NM_005142.3
p.C143Y
c.428G>A
1 paper
NM_005142.3
p.L142_C143delFs
c.424_427del4
2 papers
NM_005142.3
p.F157L
c.469T>C
1 paper
NM_005142.3
p.F157L
c.471T>G
1 paper
NM_005142.3
p.F157L
c.471T>A
1 paper
NM_005142.3
p.A141E
c.422C>A
1 paper
NM_005142.3
p.L140M
c.418T>A
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