Varaico: Literature-Extracted Genetic Variants

Gene:BLVRA
Variant:p.S33insFs

BLVRA

41 papers

RefSeq Summary

The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gen...

Pfam Domains

GFO_IDH_MocAaa 9–125UCSCOxidoreductase family, NAD-binding Rossmann fold
Biliv-reduc_cataa 133–245UCSCBiliverdin reductase, catalytic

Gene Aliases

HGNC Name

biliverdin reductase A

HGNC Previous Symbol

BLVR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000712.4
p.S33insFs
c.99dupC
Surrounding Variants
1 paper
NM_000712.4
p.L37V
c.109C>G
1 paper
NM_000712.4
p.M24I
c.72G>A
1 paper
NM_000712.4
p.M24I
c.72G>C
1 paper
NM_000712.4
p.M24I
c.72G>T
1 paper
NM_000712.4
p.R23W
c.67C>T
2 papers
NM_000712.4
p.S44*
c.131C>A
3 papers
NM_000712.4
p.R18*
c.52C>T
1 paper
NM_000712.4
p.G17A
c.50G>C
1 paper
NM_000712.4
p.E6K
c.16G>A
1 paper
NM_000712.4
p.G49E
c.146G>A
1 paper
NM_000712.4
p.G49G
c.147G>C
1 paper
NM_000712.4
p.Q56_I57ins0
c.167_169dupAGA
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."