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.C404*

c.1212C>A

Surrounding Variants

1 paper

NM_002087.4

p.P405T

c.1213C>A

1 paper

NM_002087.4

p.P405S

c.1213C>T

2 papers

NM_002087.4

p.C404F

c.1211G>T

1 paper

NM_002087.4

p.Q406_Y408del3

c.1216_1223del9

1 paper

NM_002087.4

p.Q406_Y408delFs

c.1216_1223del8

5 papers

NM_002087.4

p.Q406*

c.1216C>T

11 papers

NM_002087.4

p.Q401*

c.1201C>T

1 paper

NM_002087.4

p.Y408*

c.1224C>A

1 paper

NM_002087.4

p.Y408*

c.1224C>G

1 paper

NM_002087.4

p.Y408Y

c.1224C>T

1 paper

NM_002087.4

p.Q401del1

c.1201_1203delCAG

1 paper

NM_002087.4

p.T409K

c.1226C>A