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.G425*

c.1273G>T

Surrounding Variants

1 paper

NM_002087.4

p.E427K

c.1279G>A

1 paper

NM_002087.4

p.I422T

c.1265T>C

3 papers

NM_002087.4

p.I422fs

c.1264_1265fs

3 papers

NM_002087.4

p.I422fs

c.1264_1265fs

1 paper

NM_002087.4

p.E421fs

c.1261_1262fs

1 paper

NM_002087.4

p.E421_I422del2

c.1261_1265del6

1 paper

NM_002087.4

p.A431S

c.1291G>T

1 paper

NM_002087.4

p.A431G

c.1292C>G

1 paper

NM_002087.4

p.A431V

c.1292C>T

15 papers

NM_002087.4

p.R418Q

c.1253G>A

51 papers

NM_002087.4

p.R418*

c.1252C>T

41 papers

NM_002087.4

p.R432C

c.1294C>T