Varaico: Literature-Extracted Genetic Variants

Gene:BST1
Variant:p.L214delFs

BST1

79 papers

RefSeq Summary

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% simila...

Pfam Domains

Rib_hydrolayseaa 40–280UCSCADP-ribosyl cyclase

Gene Aliases

HGNC Name

bone marrow stromal cell antigen 1

HGNC Alias Symbols

CD157; BST-1; cADPR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004334.3
p.L214delFs
c.642delC
Surrounding Variants
1 paper
NM_004334.3
p.L214fs
c.640_641fs
1 paper
NM_004334.3
p.E210G
c.629A>G
1 paper
NM_004334.3
p.D208N
c.622G>A
1 paper
NM_004334.3
p.R221*
c.661C>T
1 paper
NM_004334.3
p.A207P
c.619G>C
2 papers
NM_004334.3
p.E223K
c.667G>A
1 paper
NM_004334.3
p.G204Splc
c.612-104T>C
1 paper
NM_004334.3
p.S183N
c.548G>A
1 paper
NM_004334.3
p.G241G
c.723C>T
1 paper
NM_004334.3
p.D262G
c.785A>G
1 paper
NM_004334.3
p.R264*
c.790C>T
1 paper
NM_004334.3
p.S176S
c.528C>T
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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."