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.D317delFs

c.950_951delAC

Surrounding Variants

2 papers

NM_002087.4

p.D317fs

c.949_950fs

1 paper

NM_002087.4

p.D317_H320del0

c.949_960del12

1 paper

NM_002087.4

p.E316Q

c.946G>C

1 paper

NM_002087.4

p.C315S

c.944G>C

1 paper

NM_002087.4

p.C315S

c.943T>A

1 paper

NM_002087.4

p.C315fs

c.943_944fs

11 papers

NM_002087.4

p.C314*

c.942C>A

2 papers

NM_002087.4

p.C315_E316delFs

c.945_946delTG

2 papers

NM_002087.4

p.H320R

c.959A>G

1 paper

NM_002087.4

p.H320_C321delFs

c.960_961delCT

1 paper

NM_002087.4

p.C321del1

c.961_963delTGC

2 papers

NM_002087.4

p.Q311_A312Splc

c.934-1G>A