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.M1_W2insFs

c.3_4insT

Surrounding Variants

14 papers

NM_002087.4

p.M1I

c.3G>A

4 papers

NM_002087.4

p.M1I

c.3G>C

4 papers

NM_002087.4

p.M1I

c.3G>T

1 paper

NM_002087.4

p.T3_W7del5

c.7_20del15

1 paper

NM_002087.4

p.M1K

c.2T>A

24 papers

NM_002087.4

p.M1T

c.2T>C

1 paper

NM_002087.4

p.M1R

c.2T>G

1 paper

NM_002087.4

p.M1_T3delFs

c.3_7del5

1 paper

NM_002087.4

p.M1insFs

c.2dupT

8 papers

NM_002087.4

p.M1L

c.1A>C

12 papers

NM_002087.4

p.M1V

c.1A>G

9 papers

NM_002087.4

p.M1L

c.1A>T