Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.H447H

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
3 papers
NM_002087.4
p.H447H
c.1341C>T
Surrounding Variants
2 papers
NM_002087.4
p.T448I
c.1343C>T
1 paper
NM_002087.4
p.V452_P458del0
c.1354_1374del21
1 paper
NM_002087.4
p.Q446*
c.1336C>T
2 papers
NM_002087.4
p.D445_Q446del2
c.1333_1337del6
2 papers
NM_002087.4
p.P451fs
c.1351_1352fs
2 papers
NM_002087.4
p.P451A
c.1351C>G
16 papers
NM_002087.4
p.P451L
c.1352C>T
6 papers
NM_002087.4
p.V452delFs
c.1354delG
3 papers
NM_002087.4
p.V452fs
c.1354_1355fs
2 papers
NM_002087.4
p.V452fs
c.1354_1355fs
1 paper
NM_002087.4
p.I442_T448delins
c.1326_1344delinsCTGC
1 paper
NM_002087.4
p.G453insFs
c.1359dupG
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