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

1 paper

NM_002087.4

p.G453R

c.1357G>C

Surrounding Variants

1 paper

NM_002087.4

p.G453R

c.1357G>A

1 paper

NM_002087.4

p.G453_Q454insG

c.1357_1361ins3

1 paper

NM_002087.4

p.G453insFs

c.1359dupG

3 papers

NM_002087.4

p.V452fs

c.1354_1355fs

2 papers

NM_002087.4

p.V452fs

c.1354_1355fs

16 papers

NM_002087.4

p.P451L

c.1352C>T

6 papers

NM_002087.4

p.V452delFs

c.1354delG

2 papers

NM_002087.4

p.P451fs

c.1351_1352fs

2 papers

NM_002087.4

p.P451A

c.1351C>G

1 paper

NM_002087.4

p.T455I

c.1364C>T

1 paper

NM_002087.4

p.V452_P458del0

c.1354_1374del21

2 papers

NM_002087.4

p.T448I

c.1343C>T