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

3 papers

NM_002087.4

p.T268P

c.802A>C

Surrounding Variants

3 papers

NM_002087.4

p.T268M

c.803C>T

1 paper

NM_002087.4

p.T268T

c.804G>A

1 paper

NM_002087.4

p.D269V

c.806A>T

2 papers

NM_002087.4

p.L270F

c.808C>T

10 papers

NM_002087.4

p.A266P

c.796G>C

48 papers

NM_002087.4

p.L271_T272delFs

c.813_816del4

2 papers

NM_002087.4

p.L271fs

c.811_812fs

1 paper

NM_002087.4

p.L271V

c.811C>G

1 paper

NM_002087.4

p.L271R

c.812T>G

47 papers

NM_002087.4

p.T272fs

c.814_815fs

19 papers

NM_002087.4

p.T272fs

c.814_815fs

2 papers

NM_002087.4

p.E264K

c.790G>A