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

3 papers

NM_002087.4

p.P34P

c.102C>T

Surrounding Variants

1 paper

NM_002087.4

p.P34L

c.101C>T

16 papers

NM_002087.4

p.G35R

c.103G>A

16 papers

NM_002087.4

p.G35R

c.103G>C

12 papers

NM_002087.4

p.G35fs

c.103_104fs

5 papers

NM_002087.4

p.G35fs

c.103_104fs

1 paper

NM_002087.4

p.P34T

c.100C>A

4 papers

NM_002087.4

p.P34S

c.100C>T

15 papers

NM_002087.4

p.D33E

c.99C>A

13 papers

NM_002087.4

p.D33E

c.99C>G

10 papers

NM_002087.4

p.D33D

c.99C>T

1 paper

NM_002087.4

p.D33G

c.98A>G

24 papers

NM_002087.4

p.P34delFs

c.102delC