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

1–12 of 1046 variants

187 papers

NM_002087.4

p.R493*

c.1477C>T

90 papers

NM_002087.4

p.A9D

c.26C>A

74 papers

NM_002087.4

p.C139R

c.415T>C

51 papers

NM_002087.4

p.R418*

c.1252C>T

48 papers

NM_002087.4

p.L271_T272delFs

c.813_816del4

47 papers

NM_002087.4

p.T272fs

c.814_815fs

45 papers

NM_002087.4

p.R110*

c.328C>T

42 papers

NM_002087.4

p.N236_A237Splc

c.709-1G>A

41 papers

NM_002087.4

p.R432C

c.1294C>T

38 papers

NM_002087.4

p.R433W

c.1297C>T

34 papers

NM_002087.4

p.Q130_F131delFs

c.388_391del4

33 papers

NM_002087.4

p.N236_A237Splc

c.709-2A>G