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

3 papers

NM_002087.4

p.V121M

c.361G>A

Surrounding Variants

3 papers

NM_002087.4

p.V121fs

c.361_362fs

1 paper

NM_002087.4

p.V121fs

c.361_362fs

10 papers

NM_002087.4

p.V121delFs

c.361delG

1 paper

NM_002087.4

p.V121E

c.362T>A

1 paper

NM_002087.4

p.V121A

c.362T>C

18 papers

NM_002087.4

p.S120Y

c.359C>A

1 paper

NM_002087.4

p.S120P

c.358T>C

1 paper

NM_002087.4

p.N118fs

c.352_353fs

1 paper

NM_002087.4

p.I124V

c.370A>G

2 papers

NM_002087.4

p.N118fs

c.352_353fs

1 paper

NM_002087.4

p.I124T

c.371T>C

11 papers

NM_002087.4

p.N118del1

c.352_354delAAC