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.Q114H

c.342A>T

Surrounding Variants

1 paper

NM_002087.4

p.Q114L

c.341A>T

1 paper

NM_002087.4

p.R115*

c.343A>T

30 papers

NM_002087.4

p.S116*

c.347C>A

29 papers

NM_002087.4

p.S116*

c.347C>G

8 papers

NM_002087.4

p.S116S

c.348A>C

1 paper

NM_002087.4

p.S116S

c.348A>G

2 papers

NM_002087.4

p.C112Y

c.335G>A

5 papers

NM_002087.4

p.G117Splc

c.349+1G>A

5 papers

NM_002087.4

p.G117Splc

c.349+1G>C

1 paper

NM_002087.4

p.S111Y

c.332C>A

1 paper

NM_002087.4

p.S111F

c.332C>T

9 papers

NM_002087.4

p.R110Q

c.329G>A