Varaico: Literature-Extracted Genetic Variants

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

11 papers

NM_002087.4

p.Q401*

c.1201C>T

Surrounding Variants

1 paper

NM_002087.4

p.Q401del1

c.1201_1203delCAG

1 paper

NM_002087.4

p.D399G

c.1196A>G

1 paper

NM_002087.4

p.D399fs

c.1195_1196fs

2 papers

NM_002087.4

p.D399delFs

c.1196_1197delAC

1 paper

NM_002087.4

p.D399fs

c.1195_1196fs

1 paper

NM_002087.4

p.S398W

c.1193C>G

6 papers

NM_002087.4

p.S398L

c.1193C>T

1 paper

NM_002087.4

p.S398P

c.1192T>C

1 paper

NM_002087.4

p.S398fs

c.1192_1193fs

2 papers

NM_002087.4

p.C404F

c.1211G>T

2 papers

NM_002087.4

p.C404*

c.1212C>A

4 papers

NM_002087.4

p.C397Y

c.1190G>A