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

1 paper

NM_002087.4

p.P357Q

c.1070C>A

Surrounding Variants

4 papers

NM_002087.4

p.P357R

c.1070C>G

4 papers

NM_002087.4

p.P357fs

c.1069_1070fs

1 paper

NM_002087.4

p.P357fs

c.1069_1070fs

8 papers

NM_002087.4

p.Q358*

c.1072C>T

6 papers

NM_002087.4

p.P357delFs

c.1069delC

1 paper

NM_002087.4

p.A359delFs

c.1075delG

1 paper

NM_002087.4

p.P355R

c.1064C>G

2 papers

NM_002087.4

p.A359V

c.1076C>T

5 papers

NM_002087.4

p.P355_P357del3

c.1063_1070del9

1 paper

NM_002087.4

p.L354fs

c.1060_1061fs

1 paper

NM_002087.4

p.K361E

c.1081A>G

1 paper

NM_002087.4

p.S353N

c.1058G>A