Varaico: Literature-Extracted Genetic Variants

Gene:PROB1
Variant:p.A506V

PROB1

58 papers

Pfam Domains

DUF4585aa 874–943UCSCDomain of unknown function (DUF4585)

Gene Aliases

HGNC Name

proline rich basic protein 1

HGNC Previous Symbol

C5orf65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001161546.2
p.A506V
c.1517C>T
Surrounding Variants
1 paper
NM_001161546.2
p.A506S
c.1516G>T
1 paper
NM_001161546.2
p.P498Q
c.1493C>A
1 paper
NM_001161546.2
p.A489fs
c.1465_1466fs
1 paper
NM_001161546.2
p.A489insFs
c.1466_1467ins8
1 paper
NM_001161546.2
p.W461*
c.1383G>A
1 paper
NM_001161546.2
p.W461*
c.1382G>A
1 paper
NM_001161546.2
p.S552P
c.1654T>C
1 paper
NM_001161546.2
p.P456L
c.1367C>T
1 paper
NM_001161546.2
p.E569Q
c.1705G>C
1 paper
NM_001161546.2
p.G577E
c.1730G>A
1 paper
NM_001161546.2
p.R423W
c.1267C>T
1 paper
NM_001161546.2
p.R420W
c.1258C>T
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."