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.R478C

c.1432C>T

Surrounding Variants

4 papers

NM_002087.4

p.R478H

c.1433G>A

3 papers

NM_002087.4

p.E476_D477delFs

c.1428_1431del4

1 paper

NM_002087.4

p.E476K

c.1426G>A

1 paper

NM_002087.4

p.E476fs

c.1426_1427fs

1 paper

NM_002087.4

p.E476fs

c.1426_1427fs

1 paper

NM_002087.4

p.C481_C482del2

c.1441_1445del6

1 paper

NM_002087.4

p.C475C

c.1425C>T

2 papers

NM_002087.4

p.C475R

c.1423T>C

1 paper

NM_002087.4

p.C481R

c.1441T>C

1 paper

NM_002087.4

p.C474C

c.1422C>T

5 papers

NM_002087.4

p.C474fs

c.1420_1421fs

1 paper

NM_002087.4

p.C474fs

c.1420_1421fs