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.P512delFs

c.1535delC

Surrounding Variants

3 papers

NM_002087.4

p.P512fs

c.1534_1535fs

3 papers

NM_002087.4

p.P512fs

c.1534_1535fs

3 papers

NM_002087.4

p.R510C

c.1528C>T

1 paper

NM_002087.4

p.H513delFs

c.1538_1539delAC

1 paper

NM_002087.4

p.H513D

c.1537C>G

12 papers

NM_002087.4

p.V514M

c.1540G>A

1 paper

NM_002087.4

p.F507F

c.1521C>T

1 paper

NM_002087.4

p.G515S

c.1543G>A

18 papers

NM_002087.4

p.G515A

c.1544G>C

1 paper

NM_002087.4

p.A505A

c.1515C>T

8 papers

NM_002087.4

p.A505G

c.1514C>G

1 paper

NM_002087.4

p.D518D

c.1554C>T