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.S106N

c.317G>A

Surrounding Variants

1 paper

NM_002087.4

p.C105_S106insFs

c.315_316insT

1 paper

NM_002087.4

p.A107G

c.320C>G

8 papers

NM_002087.4

p.C105Y

c.314G>A

8 papers

NM_002087.4

p.A107A

c.321A>G

16 papers

NM_002087.4

p.C105R

c.313T>C

4 papers

NM_002087.4

p.C105insFs

c.314dupG

3 papers

NM_002087.4

p.C105fs

c.313_314fs

1 paper

NM_002087.4

p.C105fs

c.313_314fs

1 paper

NM_002087.4

p.D108E

c.324C>A

1 paper

NM_002087.4

p.D108D

c.324C>T

5 papers

NM_002087.4

p.G109R

c.325G>A

6 papers

NM_002087.4

p.G109R

c.325G>C