Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.R418*

GRN

1,081 papers

RefSeq Summary

Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precu...

Pfam Domains

Granulinaa 72–113UCSCGranulin
Granulinaa 138–179UCSCGranulin
Granulinaa 220–261UCSCGranulin
Granulinaa 295–336UCSCGranulin
Granulinaa 377–417UCSCGranulin
Granulinaa 455–496UCSCGranulin

Gene Aliases

HGNC Name

granulin precursor

HGNC Alias Symbols

PCDGF; PGRN; CLN11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
51 papers
NM_002087.4
p.R418*
c.1252C>T
Surrounding Variants
15 papers
NM_002087.4
p.R418Q
c.1253G>A
7 papers
NM_002087.4
p.G419_E421insFs
c.1256_1263dup8
1 paper
NM_002087.4
p.Q417E
c.1249C>G
5 papers
NM_002087.4
p.C416fs
c.1246_1247fs
2 papers
NM_002087.4
p.C416fs
c.1246_1247fs
3 papers
NM_002087.4
p.C416insFs
c.1246_1247insT
1 paper
NM_002087.4
p.E421_I422del2
c.1261_1265del6
9 papers
NM_002087.4
p.Q415*
c.1243C>T
1 paper
NM_002087.4
p.E421fs
c.1261_1262fs
5 papers
NM_002087.4
p.G414V
c.1241G>T
3 papers
NM_002087.4
p.I422fs
c.1264_1265fs
3 papers
NM_002087.4
p.I422fs
c.1264_1265fs
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."