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.F136del1

c.406_408delTTC

Surrounding Variants

3 papers

NM_002087.4

p.D135V

c.404A>T

1 paper

NM_002087.4

p.P134P

c.402G>A

1 paper

NM_002087.4

p.P134L

c.401C>T

1 paper

NM_002087.4

p.S137_T138del2

c.409_413del6

1 paper

NM_002087.4

p.S137F

c.410C>T

1 paper

NM_002087.4

p.C133fs

c.397_398fs

1 paper

NM_002087.4

p.E132_C133insFs

c.396_397insG

2 papers

NM_002087.4

p.T138K

c.413C>A

4 papers

NM_002087.4

p.F131L

c.393C>A

4 papers

NM_002087.4

p.F131L

c.393C>G

74 papers

NM_002087.4

p.C139R

c.415T>C

1 paper

NM_002087.4

p.C139Y

c.416G>A