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

2 papers

NM_002087.4

p.V90L

c.268G>T

Surrounding Variants

2 papers

NM_002087.4

p.V90M

c.268G>A

24 papers

NM_002087.4

p.V90_A91ins4

c.268_272ins12

1 paper

NM_002087.4

p.A89A

c.267C>T

5 papers

NM_002087.4

p.A89V

c.266C>T

1 paper

NM_002087.4

p.A89fs

c.265_266fs

1 paper

NM_002087.4

p.A89fs

c.265_266fs

1 paper

NM_002087.4

p.A91E

c.272C>A

1 paper

NM_002087.4

p.A91V

c.272C>T

1 paper

NM_002087.4

p.A91_D94delFs

c.273_282del10

1 paper

NM_002087.4

p.C92_G95delFs

c.274_283del10

1 paper

NM_002087.4

p.C92fs

c.274_275fs

3 papers

NM_002087.4

p.C92*

c.276C>A