Varaico: Literature-Extracted Genetic Variants

Gene:CBLIF
Variant:p.Q23R

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
5 papers
NM_005142.3
p.Q23R
c.68A>G
Surrounding Variants
2 papers
NM_005142.3
p.Q23E
c.67C>G
7 papers
NM_005142.3
p.S27Splc
c.79+1G>A
1 paper
NM_005142.3
p.A16G
c.47C>G
1 paper
NM_005142.3
p.A14V
c.41C>T
2 papers
NM_005142.3
p.L12F
c.34C>T
1 paper
NM_005142.3
p.L11V
c.31C>G
1 paper
NM_005142.3
p.L9P
c.26T>C
1 paper
NM_005142.3
p.L9V
c.25C>G
4 papers
NM_005142.3
p.F4L
c.10T>C
1 paper
NM_005142.3
p.F4I
c.10T>A
1 paper
NM_005142.3
p.A2V
c.5C>T
1 paper
NM_005142.3
p.A2T
c.4G>A
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