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

2 papers

NM_002087.4

p.T487N

c.1460C>A

Surrounding Variants

7 papers

NM_002087.4

p.T487I

c.1460C>T

4 papers

NM_002087.4

p.V490M

c.1468G>A

1 paper

NM_002087.4

p.V490L

c.1468G>T

1 paper

NM_002087.4

p.P483L

c.1448C>T

3 papers

NM_002087.4

p.C482*

c.1446C>A

1 paper

NM_002087.4

p.C482Y

c.1445G>A

187 papers

NM_002087.4

p.R493*

c.1477C>T

3 papers

NM_002087.4

p.R493Q

c.1478G>A

1 paper

NM_002087.4

p.C481R

c.1441T>C

1 paper

NM_002087.4

p.C481_C482del2

c.1441_1445del6

1 paper

NM_002087.4

p.S494F

c.1481C>T

2 papers

NM_002087.4

p.C495C

c.1485C>T