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.D445_Q446del2

c.1333_1337del6

Surrounding Variants

1 paper

NM_002087.4

p.Q446*

c.1336C>T

1 paper

NM_002087.4

p.I442_T448delins

c.1326_1344delinsCTGC

2 papers

NM_002087.4

p.I442M

c.1326C>G

2 papers

NM_002087.4

p.G443_C444del2

c.1327_1331del6

3 papers

NM_002087.4

p.H447H

c.1341C>T

2 papers

NM_002087.4

p.T448I

c.1343C>T

1 paper

NM_002087.4

p.D441fs

c.1321_1322fs

1 paper

NM_002087.4

p.D441fs

c.1321_1322fs

1 paper

NM_002087.4

p.V452_P458del0

c.1354_1374del21

1 paper

NM_002087.4

p.R440*

c.1318A>T

8 papers

NM_002087.4

p.P439_R440delFs

c.1317_1318delCA

4 papers

NM_002087.4

p.P439fs

c.1315_1316fs