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.V15L

c.43G>T

Surrounding Variants

1 paper

NM_002087.4

p.V15L

c.43G>C

2 papers

NM_002087.4

p.L14L

c.42G>A

1 paper

NM_002087.4

p.V15A

c.44T>C

1 paper

NM_002087.4

p.A16T

c.46G>A

5 papers

NM_002087.4

p.A16insFs

c.46_47ins4

1 paper

NM_002087.4

p.A16S

c.46G>T

1 paper

NM_002087.4

p.A16V

c.47C>T

1 paper

NM_002087.4

p.G13G

c.39G>A

3 papers

NM_002087.4

p.G13R

c.37G>A

1 paper

NM_002087.4

p.G17R

c.49G>A

1 paper

NM_002087.4

p.G13R

c.37G>C

1 paper

NM_002087.4

p.G17insFs

c.49_50ins4