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.W464*

c.1392G>A

Surrounding Variants

11 papers

NM_002087.4

p.A465_C466insFs

c.1395_1396insC

1 paper

NM_002087.4

p.A465_C466delFs

c.1395_1396delCT

1 paper

NM_002087.4

p.C466insFs

c.1396_1397insC

4 papers

NM_002087.4

p.C466fs

c.1396_1397fs

2 papers

NM_002087.4

p.C466fs

c.1396_1397fs

1 paper

NM_002087.4

p.G462G

c.1386G>T

1 paper

NM_002087.4

p.Q468_L469del2

c.1402_1406del6

1 paper

NM_002087.4

p.G461G

c.1383T>A

21 papers

NM_002087.4

p.Q468*

c.1402C>T

5 papers

NM_002087.4

p.L469F

c.1407G>C

5 papers

NM_002087.4

p.L469F

c.1407G>T

1 paper

NM_002087.4

p.P470S

c.1408C>T