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.T278fs

c.832_833fs

Surrounding Variants

1 paper

NM_002087.4

p.T278fs

c.832_833fs

1 paper

NM_002087.4

p.T278A

c.832A>G

1 paper

NM_002087.4

p.T278insFs

c.834dupA

1 paper

NM_002087.4

p.T278I

c.833C>T

1 paper

NM_002087.4

p.V279M

c.835G>A

5 papers

NM_002087.4

p.V279Splc

c.835+1G>A

3 papers

NM_002087.4

p.T278delFs

c.833_834delCA

1 paper

NM_002087.4

p.H277_T278del0

c.829_834del6

5 papers

NM_002087.4

p.A276V

c.827C>T

1 paper

NM_002087.4

p.A276S

c.826G>T

4 papers

NM_002087.4

p.P275L

c.824C>T

3 papers

NM_002087.4

p.P275S

c.823C>T