Varaico: Literature-Extracted Genetic Variants

Gene:BST2
Variant:p.V134E

BST2

70 papers

RefSeq Summary

Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this p...

Pfam Domains

BST2aa 49–136UCSCBone marrow stromal antigen 2

Gene Aliases

HGNC Name

bone marrow stromal cell antigen 2

HGNC Alias Symbols

CD317; tetherin; BST-2; HM1.24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004335.4
p.V134E
c.401T>A
Surrounding Variants
1 paper
NM_004335.4
p.E135A
c.404A>C
1 paper
NM_004335.4
p.R136Q
c.407G>A
3 papers
NM_004335.4
p.D129E
c.387C>G
3 papers
NM_004335.4
p.D129E
c.387C>A
1 paper
NM_004335.4
p.D129A
c.386A>C
1 paper
NM_004335.4
p.D129N
c.385G>A
1 paper
NM_004335.4
p.T122A
c.364A>G
1 paper
NM_004335.4
p.T121A
c.361A>G
1 paper
NM_004335.4
p.I120F
c.358A>T
1 paper
NM_004335.4
p.E119K
c.355G>A
1 paper
NM_004335.4
p.G118A
c.353G>C
2 papers
NM_004335.4
p.E117A
c.350A>C
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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."