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.P100fs

c.298_299fs

Surrounding Variants

1 paper

NM_002087.4

p.P100fs

c.298_299fs

1 paper

NM_002087.4

p.P100S

c.298C>T

1 paper

NM_002087.4

p.R101_C105delFs

c.302_315del14

5 papers

NM_002087.4

p.P100delFs

c.299delC

1 paper

NM_002087.4

p.R101fs

c.301_302fs

3 papers

NM_002087.4

p.R101W

c.301C>T

1 paper

NM_002087.4

p.C99fs

c.295_296fs

5 papers

NM_002087.4

p.C99fs

c.295_296fs

5 papers

NM_002087.4

p.C99_F103delFs

c.295_308del14

5 papers

NM_002087.4

p.R101Q

c.302G>A

1 paper

NM_002087.4

p.C98S

c.293G>C

1 paper

NM_002087.4

p.C98S

c.292T>A