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.H243Q

c.729C>A

Surrounding Variants

1 paper

NM_002087.4

p.H243Q

c.729C>G

1 paper

NM_002087.4

p.L244_P248del5

c.730_743del15

1 paper

NM_002087.4

p.L244P

c.731T>C

1 paper

NM_002087.4

p.D242N

c.724G>A

1 paper

NM_002087.4

p.S241S

c.723C>T

1 paper

NM_002087.4

p.S241C

c.722C>G

1 paper

NM_002087.4

p.S241F

c.722C>T

2 papers

NM_002087.4

p.C246*

c.738C>A

1 paper

NM_002087.4

p.C246C

c.738C>T

3 papers

NM_002087.4

p.C247Y

c.740G>A

1 paper

NM_002087.4

p.P248R

c.743C>G

26 papers

NM_002087.4

p.P248L

c.743C>T