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.A237delFs

c.711delC

Surrounding Variants

8 papers

NM_002087.4

p.A237fs

c.709_710fs

5 papers

NM_002087.4

p.A237fs

c.709_710fs

3 papers

NM_002087.4

p.A237V

c.710C>T

42 papers

NM_002087.4

p.N236_A237Splc

c.709-1G>A

4 papers

NM_002087.4

p.N236_A237Splc

c.709-1G>C

33 papers

NM_002087.4

p.N236_A237Splc

c.709-2A>G

8 papers

NM_002087.4

p.N236_A237Splc

c.709-2A>T

1 paper

NM_002087.4

p.T238fs

c.712_713fs

6 papers

NM_002087.4

p.N236_A237Splc

c.709-3C>G

1 paper

NM_002087.4

p.T238I

c.713C>T

1 paper

NM_002087.4

p.T238T

c.714C>G

1 paper

NM_002087.4

p.S241C

c.722C>G