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.Q24H

c.72G>T

Surrounding Variants

2 papers

NM_002087.4

p.G23D

c.68G>A

2 papers

NM_002087.4

p.C26delFs

c.77delG

2 papers

NM_002087.4

p.C26fs

c.76_77fs

2 papers

NM_002087.4

p.C26*

c.78C>A

22 papers

NM_002087.4

p.C26C

c.78C>T

1 paper

NM_002087.4

p.D22G

c.65A>G

1 paper

NM_002087.4

p.P27S

c.79C>T

4 papers

NM_002087.4

p.D22insFs

c.64_65insC

16 papers

NM_002087.4

p.D22fs

c.64_65fs

1 paper

NM_002087.4

p.D22fs

c.64_65fs

14 papers

NM_002087.4

p.P21_D22insFs

c.63_64insC

1 paper

NM_002087.4

p.P21insFs

c.63dupA