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

29 papers

NM_002087.4

p.Q125*

c.373C>T

Surrounding Variants

1 paper

NM_002087.4

p.I124T

c.371T>C

1 paper

NM_002087.4

p.I124V

c.370A>G

3 papers

NM_002087.4

p.C126*

c.378C>A

7 papers

NM_002087.4

p.C126W

c.378C>G

3 papers

NM_002087.4

p.P127fs

c.379_380fs

2 papers

NM_002087.4

p.P127A

c.379C>G

11 papers

NM_002087.4

p.P127delFs

c.380_381delCT

1 paper

NM_002087.4

p.P127fs

c.379_380fs

7 papers

NM_002087.4

p.D128_S129delFs

c.384_387del4

1 paper

NM_002087.4

p.V121E

c.362T>A

16 papers

NM_002087.4

p.D128D

c.384T>C

1 paper

NM_002087.4

p.V121A

c.362T>C