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.T409T

c.1227G>A

Surrounding Variants

1 paper

NM_002087.4

p.T409T

c.1227G>T

1 paper

NM_002087.4

p.T409K

c.1226C>A

9 papers

NM_002087.4

p.V411insFs

c.1232_1233insGT

5 papers

NM_002087.4

p.T409M

c.1226C>T

6 papers

NM_002087.4

p.V411delFs

c.1231_1232delGT

1 paper

NM_002087.4

p.C410Y

c.1229G>A

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

7 papers

NM_002087.4

p.V411fs

c.1231_1232fs

3 papers

NM_002087.4

p.V411fs

c.1231_1232fs

2 papers

NM_002087.4

p.V411_A412insFs

c.1233_1234insGT