Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G384_G387del4

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
1 paper
NM_002087.4
p.G384_G387del4
c.1150_1160del12
Surrounding Variants
1 paper
NM_002087.4
p.G384delFs
c.1150delG
3 papers
NM_002087.4
p.G384R
c.1150G>A
3 papers
NM_002087.4
p.G384R
c.1150G>C
1 paper
NM_002087.4
p.G384fs
c.1150_1151fs
3 papers
NM_002087.4
p.G384A
c.1151G>C
2 papers
NM_002087.4
p.E385_C388del4
c.1153_1163del12
1 paper
NM_002087.4
p.S383del1
c.1147_1149delTCT
9 papers
NM_002087.4
p.T382insFs
c.1145_1146insA
7 papers
NM_002087.4
p.T382fs
c.1144_1145fs
17 papers
NM_002087.4
p.T382delFs
c.1145delC
6 papers
NM_002087.4
p.T382fs
c.1144_1145fs
6 papers
NM_002087.4
p.T382insFs
c.1144_1145insA
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