Varaico: Literature-Extracted Genetic Variants

Gene:BLCAP
Variant:p.V49L

BLCAP

20 papers

RefSeq Summary

This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protei...

Pfam Domains

BC10aa 1–65UCSCBladder cancer-related protein BC10

Gene Aliases

HGNC Name

BLCAP apoptosis inducing factor

HGNC Alias Symbol

BC10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006698.4
p.V49L
c.145G>C
Surrounding Variants
1 paper
NM_006698.4
p.L33R
c.98T>G
1 paper
NM_006698.4
p.L33M
c.97C>A
1 paper
NM_006698.4
p.M29I
c.87G>C
5 papers
NM_006698.4
p.K15R
c.44A>G
1 paper
NM_006698.4
p.K15Q
c.43A>C
1 paper
NM_006698.4
p.Q5L
c.14A>T
3 papers
NM_006698.4
p.Q5R
c.14A>G
3 papers
NM_006698.4
p.Y2C
c.5A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."