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

26 papers

NM_002087.4

p.P248L

c.743C>T

Surrounding Variants

1 paper

NM_002087.4

p.P248R

c.743C>G

2 papers

NM_002087.4

p.Q249E

c.745C>G

5 papers

NM_002087.4

p.Q249*

c.745C>T

3 papers

NM_002087.4

p.C247Y

c.740G>A

1 paper

NM_002087.4

p.D250delFs

c.748delG

2 papers

NM_002087.4

p.C246*

c.738C>A

1 paper

NM_002087.4

p.C246C

c.738C>T

1 paper

NM_002087.4

p.D250fs

c.748_749fs

5 papers

NM_002087.4

p.D250E

c.750C>A

3 papers

NM_002087.4

p.D250E

c.750C>G

6 papers

NM_002087.4

p.T251S

c.751A>T

2 papers

NM_002087.4

p.C253_D254insFs

c.759_760dupTG