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.Q380E

c.1138C>G

Surrounding Variants

1 paper

NM_002087.4

p.Q380_L381del2

c.1138_1142del6

1 paper

NM_002087.4

p.L381V

c.1141C>G

6 papers

NM_002087.4

p.T382insFs

c.1144_1145insA

7 papers

NM_002087.4

p.T382fs

c.1144_1145fs

17 papers

NM_002087.4

p.T382delFs

c.1145delC

6 papers

NM_002087.4

p.T382fs

c.1144_1145fs

9 papers

NM_002087.4

p.T382insFs

c.1145_1146insA

3 papers

NM_002087.4

p.T377insFs

c.1130_1131insG

1 paper

NM_002087.4

p.S383del1

c.1147_1149delTCT

2 papers

NM_002087.4

p.T377insFs

c.1129_1130insT

1 paper

NM_002087.4

p.T377insFs

c.1129_1130insA

1 paper

NM_002087.4

p.G384delFs

c.1150delG