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.P153T

c.457C>A

Surrounding Variants

1 paper

NM_002087.4

p.P153L

c.458C>T

2 papers

NM_002087.4

p.M152I

c.456G>A

2 papers

NM_002087.4

p.M152I

c.456G>C

3 papers

NM_002087.4

p.M152I

c.456G>T

1 paper

NM_002087.4

p.M152T

c.455T>C

1 paper

NM_002087.4

p.M152R

c.455T>G

1 paper

NM_002087.4

p.M152V

c.454A>G

1 paper

NM_002087.4

p.M152L

c.454A>T

2 papers

NM_002087.4

p.M152fs

c.454_455fs

1 paper

NM_002087.4

p.P151_M152insFs

c.453_454insG

1 paper

NM_002087.4

p.P151P

c.453C>T

1 paper

NM_002087.4

p.P151S

c.451C>T