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.W2*

c.5G>A

Surrounding Variants

6 papers

NM_002087.4

p.W2S

c.5G>C

1 paper

NM_002087.4

p.W2L

c.5G>T

1 paper

NM_002087.4

p.W2_T3delFs

c.6_9del4

3 papers

NM_002087.4

p.W2*

c.6G>A

1 paper

NM_002087.4

p.T3_L4insT

c.7_11ins3

14 papers

NM_002087.4

p.M1I

c.3G>A

4 papers

NM_002087.4

p.M1I

c.3G>C

1 paper

NM_002087.4

p.M1_W2insFs

c.3_4insT

4 papers

NM_002087.4

p.M1I

c.3G>T

1 paper

NM_002087.4

p.T3_W7del5

c.7_20del15

1 paper

NM_002087.4

p.T3N

c.8C>A

1 paper

NM_002087.4

p.M1K

c.2T>A