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

16 papers

NM_002087.4

p.W386*

c.1158G>A

Surrounding Variants

24 papers

NM_002087.4

p.W386*

c.1157G>A

1 paper

NM_002087.4

p.G387fs

c.1159_1160fs

8 papers

NM_002087.4

p.C388_I391del4

c.1162_1172del12

1 paper

NM_002087.4

p.G387insFs

c.1160dupG

1 paper

NM_002087.4

p.G387delFs

c.1160delG

1 paper

NM_002087.4

p.C388*

c.1164C>A

2 papers

NM_002087.4

p.C389delFs

c.1165delT

1 paper

NM_002087.4

p.C389_P390del2

c.1165_1169del6

2 papers

NM_002087.4

p.E385_C388del4

c.1153_1163del12

3 papers

NM_002087.4

p.G384A

c.1151G>C

1 paper

NM_002087.4

p.C389fs

c.1165_1166fs

3 papers

NM_002087.4

p.G384R

c.1150G>A