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.D518D

c.1554C>T

Surrounding Variants

8 papers

NM_002087.4

p.V519M

c.1555G>A

1 paper

NM_002087.4

p.E520*

c.1558G>T

33 papers

NM_002087.4

p.C521Y

c.1562G>A

18 papers

NM_002087.4

p.G515A

c.1544G>C

1 paper

NM_002087.4

p.G515S

c.1543G>A

1 paper

NM_002087.4

p.G522G

c.1566G>A

12 papers

NM_002087.4

p.V514M

c.1540G>A

1 paper

NM_002087.4

p.E523D

c.1569A>C

1 paper

NM_002087.4

p.E523D

c.1569A>T

1 paper

NM_002087.4

p.H513D

c.1537C>G

1 paper

NM_002087.4

p.G524E

c.1571G>A

1 paper

NM_002087.4

p.H525_F526del2

c.1573_1577del6