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

6 papers

NM_002087.4

p.D144N

c.430G>A

Surrounding Variants

1 paper

NM_002087.4

p.D144G

c.431A>G

1 paper

NM_002087.4

p.G145S

c.433G>A

1 paper

NM_002087.4

p.G145A

c.434G>C

3 papers

NM_002087.4

p.M142fs

c.424_425fs

1 paper

NM_002087.4

p.S146_W147insA

c.436_440ins3

1 paper

NM_002087.4

p.M142insFs

c.424dupA

4 papers

NM_002087.4

p.V141I

c.421G>A

1 paper

NM_002087.4

p.V141fs

c.421_422fs

1 paper

NM_002087.4

p.V141F

c.421G>T

1 paper

NM_002087.4

p.V141fs

c.421_422fs

1 paper

NM_002087.4

p.W147R

c.439T>C

3 papers

NM_002087.4

p.G148delFs

c.443_444delGG