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.Q503delFs

c.1508delA

Surrounding Variants

3 papers

NM_002087.4

p.Q503*

c.1507C>T

1 paper

NM_002087.4

p.Q503fs

c.1507_1508fs

8 papers

NM_002087.4

p.A505G

c.1514C>G

1 paper

NM_002087.4

p.A505A

c.1515C>T

1 paper

NM_002087.4

p.V500D

c.1499T>A

5 papers

NM_002087.4

p.V500I

c.1498G>A

7 papers

NM_002087.4

p.E498_V500delFs

c.1494_1498del5

1 paper

NM_002087.4

p.F507F

c.1521C>T

6 papers

NM_002087.4

p.E498fs

c.1492_1493fs

5 papers

NM_002087.4

p.E498*

c.1492G>T

3 papers

NM_002087.4

p.E498fs

c.1492_1493fs

3 papers

NM_002087.4

p.R510C

c.1528C>T