Varaico: Literature-Extracted Genetic Variants

Gene:BLTP2
Variant:p.P725L

BLTP2

98 papers

RefSeq Summary

This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells rel...

Pfam Domains

Hobbitaa 7–2208UCSCHobbit/FMP27/BTLP2 family

Gene Aliases

HGNC Name

bridge-like lipid transfer protein family member 2

HGNC Previous Symbol

KIAA0100

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014680.5
p.P725L
c.2174C>T
Surrounding Variants
1 paper
NM_014680.5
p.P725insFs
c.2173dupC
1 paper
NM_014680.5
p.P725fs
c.2173_2174fs
1 paper
NM_014680.5
p.R718H
c.2153G>A
1 paper
NM_014680.5
p.T751I
c.2252C>T
1 paper
NM_014680.5
p.R761W
c.2281C>T
1 paper
NM_014680.5
p.A808V
c.2423C>T
1 paper
NM_014680.5
p.Q810H
c.2430G>T
1 paper
NM_014680.5
p.Q810H
c.2430G>C
1 paper
NM_014680.5
p.R813Q
c.2438G>A
1 paper
NM_014680.5
p.Q831*
c.2491C>T
1 paper
NM_014680.5
p.S835delFs
c.2503delA
1 paper
NM_014680.5
p.Q845R
c.2534A>G
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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."