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.S374_Q380delFs

c.1120_1139del20

Surrounding Variants

4 papers

NM_002087.4

p.P373Fs

c.1118_1119delinsGFs

4 papers

NM_002087.4

p.P373S

c.1117C>T

5 papers

NM_002087.4

p.D376N

c.1126G>A

1 paper

NM_002087.4

p.S371T

c.1112G>C

1 paper

NM_002087.4

p.T377insFs

c.1129_1130insA

2 papers

NM_002087.4

p.T377insFs

c.1129_1130insT

3 papers

NM_002087.4

p.T377insFs

c.1130_1131insG

1 paper

NM_002087.4

p.Q380_L381del2

c.1138_1142del6

1 paper

NM_002087.4

p.D367insFs

c.1101dupT

2 papers

NM_002087.4

p.Q380E

c.1138C>G

4 papers

NM_002087.4

p.C366*

c.1098T>A

1 paper

NM_002087.4

p.L381V

c.1141C>G