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.L255fs

c.763_764fs

Surrounding Variants

1 paper

NM_002087.4

p.L255fs

c.763_764fs

2 papers

NM_002087.4

p.D254insFs

c.761_762insTG

2 papers

NM_002087.4

p.D254fs

c.760_761fs

2 papers

NM_002087.4

p.D254fs

c.760_761fs

12 papers

NM_002087.4

p.C253*

c.759T>A

18 papers

NM_002087.4

p.I256_Q257insFs

c.768_769dupCC

1 paper

NM_002087.4

p.Q257delFs

c.769delC

6 papers

NM_002087.4

p.Q257fs

c.769_770fs

15 papers

NM_002087.4

p.Q257fs

c.769_770fs

1 paper

NM_002087.4

p.C253fs

c.757_758fs

1 paper

NM_002087.4

p.Q257insFs

c.770_771insCC

1 paper

NM_002087.4

p.C253_I256delFs

c.758_767del10