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

12 papers

NM_002087.4

p.C253*

c.759T>A

Surrounding Variants

2 papers

NM_002087.4

p.D254fs

c.760_761fs

2 papers

NM_002087.4

p.D254fs

c.760_761fs

2 papers

NM_002087.4

p.D254insFs

c.761_762insTG

1 paper

NM_002087.4

p.C253fs

c.757_758fs

1 paper

NM_002087.4

p.C253_I256delFs

c.758_767del10

1 paper

NM_002087.4

p.L255fs

c.763_764fs

1 paper

NM_002087.4

p.L255fs

c.763_764fs

2 papers

NM_002087.4

p.V252M

c.754G>A

1 paper

NM_002087.4

p.V252insFs

c.754_755insC

1 paper

NM_002087.4

p.V252insFs

c.754_755insCA

4 papers

NM_002087.4

p.V252fs

c.754_755fs

2 papers

NM_002087.4

p.C253_D254insFs

c.759_760dupTG