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

9 papers

NM_002087.4

p.P365_C366delFs

c.1095_1096delCT

Surrounding Variants

1 paper

NM_002087.4

p.P365L

c.1094C>T

2 papers

NM_002087.4

p.P365A

c.1093C>G

5 papers

NM_002087.4

p.C366fs

c.1096_1097fs

4 papers

NM_002087.4

p.C366*

c.1098T>A

1 paper

NM_002087.4

p.D367insFs

c.1101dupT

1 paper

NM_002087.4

p.K361E

c.1081A>G

2 papers

NM_002087.4

p.A359V

c.1076C>T

1 paper

NM_002087.4

p.S371T

c.1112G>C

1 paper

NM_002087.4

p.A359delFs

c.1075delG

8 papers

NM_002087.4

p.Q358*

c.1072C>T

4 papers

NM_002087.4

p.P373S

c.1117C>T

1 paper

NM_002087.4

p.P357Q

c.1070C>A