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

2 papers

NM_002087.4

p.Q337_H340del0

c.1009_1020del12

Surrounding Variants

15 papers

NM_002087.4

p.Q337*

c.1009C>T

1 paper

NM_002087.4

p.Q337R

c.1010A>G

6 papers

NM_002087.4

p.G338delFs

c.1014delG

1 paper

NM_002087.4

p.G338fs

c.1012_1013fs

4 papers

NM_002087.4

p.G338Fs

c.1012_1013delinsCFs

1 paper

NM_002087.4

p.G338fs

c.1012_1013fs

1 paper

NM_002087.4

p.C335R

c.1003T>C

2 papers

NM_002087.4

p.H340delFs

c.1018delC

2 papers

NM_002087.4

p.H340fs

c.1018_1019fs

2 papers

NM_002087.4

p.H340fs

c.1018_1019fs

3 papers

NM_002087.4

p.G333fs

c.997_998fs

1 paper

NM_002087.4

p.G333fs

c.997_998fs