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.S129T

c.386G>C

Surrounding Variants

1 paper

NM_002087.4

p.S129fs

c.385_386fs

22 papers

NM_002087.4

p.Q130fs

c.388_389fs

5 papers

NM_002087.4

p.Q130*

c.388C>T

1 paper

NM_002087.4

p.Q130delFs

c.389_390delAG

12 papers

NM_002087.4

p.Q130fs

c.388_389fs

16 papers

NM_002087.4

p.D128D

c.384T>C

1 paper

NM_002087.4

p.S129insFs

c.385dupA

34 papers

NM_002087.4

p.Q130_F131delFs

c.388_391del4

7 papers

NM_002087.4

p.D128_S129delFs

c.384_387del4

4 papers

NM_002087.4

p.F131L

c.391T>C

4 papers

NM_002087.4

p.F131L

c.393C>A

3 papers

NM_002087.4

p.P127fs

c.379_380fs