Varaico: Literature-Extracted Genetic Variants

Gene:BLTP3B

BLTP3B

71 papers

Pfam Domains

BLTP3A_Baa 1–1462UCSCBridge-like lipid transfer protein family member 3A/B

Gene Aliases

HGNC Name

bridge-like lipid transfer protein family member 3B

HGNC Previous Symbol

UHRF1BP1L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
2 papers
NM_015054.2
p.R168H
c.503G>A
2 papers
NM_015054.2
p.H321Y
c.961C>T
2 papers
NM_015054.2
p.H321L
c.962A>T
2 papers
NM_015054.2
p.V323M
c.967G>A
2 papers
NM_015054.2
p.S325fs
c.973_974fs
2 papers
NM_015054.2
p.V460V
c.1380T>G
2 papers
NM_015054.2
p.T743A
c.2227A>G
1 paper
NM_015054.2
p.M1insFs
c.2_3insT
1 paper
NM_015054.2
p.A2T
c.4G>A
1 paper
NM_015054.2
p.L20fs
c.58_59fs
1 paper
NM_015054.2
p.L20delFs
c.59delA
1 paper
NM_015054.2
p.Q47H
c.141G>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."