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

4 papers

NM_002087.4

p.R535Q

c.1604G>A

Surrounding Variants

11 papers

NM_002087.4

p.R535*

c.1603C>T

3 papers

NM_002087.4

p.D536E

c.1608C>A

3 papers

NM_002087.4

p.D536E

c.1608C>G

1 paper

NM_002087.4

p.R538*

c.1612C>T

1 paper

NM_002087.4

p.R538Q

c.1613G>A

1 paper

NM_002087.4

p.N530I

c.1589A>T

1 paper

NM_002087.4

p.N530D

c.1588A>G

5 papers

NM_002087.4

p.W541C

c.1623G>C

5 papers

NM_002087.4

p.W541C

c.1623G>T

2 papers

NM_002087.4

p.A542V

c.1625C>T

1 paper

NM_002087.4

p.P545_Y546insT

c.1633_1637ins3

2 papers

NM_002087.4

p.P545S

c.1633C>T