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.A324E

c.971C>A

Surrounding Variants

2 papers

NM_002087.4

p.G325insFs

c.974dupG

1 paper

NM_002087.4

p.A324V

c.971C>T

2 papers

NM_002087.4

p.G325delFs

c.975delG

27 papers

NM_002087.4

p.A324T

c.970G>A

1 paper

NM_002087.4

p.F326fs

c.976_977fs

1 paper

NM_002087.4

p.F326fs

c.976_977fs

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

1 paper

NM_002087.4

p.D329H

c.985G>C

4 papers

NM_002087.4

p.D329insFs

c.985_986insAC

2 papers

NM_002087.4

p.D329fs

c.985_986fs