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.V8E

c.23T>A

Surrounding Variants

5 papers

NM_002087.4

p.V8M

c.22G>A

8 papers

NM_002087.4

p.W7*

c.21G>A

1 paper

NM_002087.4

p.A9P

c.25G>C

90 papers

NM_002087.4

p.A9D

c.26C>A

3 papers

NM_002087.4

p.A9V

c.26C>T

6 papers

NM_002087.4

p.W7*

c.20G>A

14 papers

NM_002087.4

p.W7R

c.19T>A

14 papers

NM_002087.4

p.W7R

c.19T>C

2 papers

NM_002087.4

p.L10I

c.28T>A

1 paper

NM_002087.4

p.S6N

c.17G>A

1 paper

NM_002087.4

p.S6T

c.17G>C

1 paper

NM_002087.4

p.S6insFs

c.18dupC