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.C416fs

c.1246_1247fs

Surrounding Variants

5 papers

NM_002087.4

p.C416fs

c.1246_1247fs

3 papers

NM_002087.4

p.C416insFs

c.1246_1247insT

7 papers

NM_002087.4

p.G419_E421insFs

c.1256_1263dup8

1 paper

NM_002087.4

p.Q417E

c.1249C>G

9 papers

NM_002087.4

p.Q415*

c.1243C>T

5 papers

NM_002087.4

p.G414V

c.1241G>T

51 papers

NM_002087.4

p.R418*

c.1252C>T

15 papers

NM_002087.4

p.R418Q

c.1253G>A

1 paper

NM_002087.4

p.E413A

c.1238A>C

1 paper

NM_002087.4

p.A412V

c.1235C>T

3 papers

NM_002087.4

p.A412fs

c.1234_1235fs

2 papers

NM_002087.4

p.V411_A412insFs

c.1233_1234insGT