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.A29V

c.86C>T

Surrounding Variants

6 papers

NM_002087.4

p.A29insFs

c.87dupC

29 papers

NM_002087.4

p.C30_C31insFs

c.90_91ins4

1 paper

NM_002087.4

p.C30insFs

c.88_89insC

2 papers

NM_002087.4

p.C30fs

c.88_89fs

2 papers

NM_002087.4

p.C30fs

c.88_89fs

2 papers

NM_002087.4

p.V28fs

c.82_83fs

1 paper

NM_002087.4

p.C31insFs

c.91_92ins4

23 papers

NM_002087.4

p.C31fs

c.91_92fs

6 papers

NM_002087.4

p.C31fs

c.91_92fs

1 paper

NM_002087.4

p.P27S

c.79C>T

2 papers

NM_002087.4

p.C26*

c.78C>A

22 papers

NM_002087.4

p.C26C

c.78C>T