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.L261F

c.781C>T

Surrounding Variants

5 papers

NM_002087.4

p.L261I

c.781C>A

1 paper

NM_002087.4

p.L261L

c.783C>A

1 paper

NM_002087.4

p.C260R

c.778T>C

1 paper

NM_002087.4

p.S262_K263insG

c.784_788ins3

1 paper

NM_002087.4

p.C260fs

c.778_779fs

1 paper

NM_002087.4

p.S262S

c.786C>T

11 papers

NM_002087.4

p.K263E

c.787A>G

5 papers

NM_002087.4

p.K259*

c.775A>T

1 paper

NM_002087.4

p.K263*

c.787A>T

3 papers

NM_002087.4

p.K259fs

c.775_776fs

1 paper

NM_002087.4

p.K259insFs

c.776dupA

4 papers

NM_002087.4

p.S258N

c.773G>A