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.V252insFs

c.754_755insC

Surrounding Variants

2 papers

NM_002087.4

p.V252M

c.754G>A

1 paper

NM_002087.4

p.V252insFs

c.754_755insCA

4 papers

NM_002087.4

p.V252fs

c.754_755fs

2 papers

NM_002087.4

p.C253_D254insFs

c.759_760dupTG

6 papers

NM_002087.4

p.T251S

c.752C>G

10 papers

NM_002087.4

p.T251_V252delFs

c.753_754delTG

1 paper

NM_002087.4

p.C253_I256delFs

c.758_767del10

6 papers

NM_002087.4

p.T251S

c.751A>T

1 paper

NM_002087.4

p.C253fs

c.757_758fs

5 papers

NM_002087.4

p.D250E

c.750C>A

3 papers

NM_002087.4

p.D250E

c.750C>G

12 papers

NM_002087.4

p.C253*

c.759T>A