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

5 papers

NM_002087.4

p.G109R

c.325G>A

Surrounding Variants

6 papers

NM_002087.4

p.G109R

c.325G>C

1 paper

NM_002087.4

p.D108E

c.324C>A

1 paper

NM_002087.4

p.D108D

c.324C>T

1 paper

NM_002087.4

p.G109G

c.327G>A

1 paper

NM_002087.4

p.R110R

c.328C>A

45 papers

NM_002087.4

p.R110*

c.328C>T

8 papers

NM_002087.4

p.A107A

c.321A>G

9 papers

NM_002087.4

p.R110Q

c.329G>A

1 paper

NM_002087.4

p.A107G

c.320C>G

1 paper

NM_002087.4

p.S111Y

c.332C>A

1 paper

NM_002087.4

p.S111F

c.332C>T

1 paper

NM_002087.4

p.S106N

c.317G>A