Varaico: Literature-Extracted Genetic Variants

FLCN

815 papers

RefSeq Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal t...

Pfam Domains

Folliculinaa 104–265UCSCVesicle coat protein involved in Golgi to plasma membrane transport

Folliculin_Caa 344–566UCSCFolliculin C-terminal domain

Gene Aliases

HGNC Name

folliculin

HGNC Alias Symbols

BHD; MGC17998; MGC23445; DENND8B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144997.7

p.L490L

c.1470G>A

Surrounding Variants

1 paper

NM_144997.7

p.L490Q

c.1469T>A

1 paper

NM_144997.7

p.T491A

c.1471A>G

1 paper

NM_144997.7

p.T491P

c.1471A>C

1 paper

NM_144997.7

p.T491I

c.1472C>T

1 paper

NM_144997.7

p.N492_Q493insG

c.1474_1478ins3

3 papers

NM_144997.7

p.T491delFs

c.1473delG

1 paper

NM_144997.7

p.A489S

c.1465G>T

2 papers

NM_144997.7

p.A489T

c.1465G>A

2 papers

NM_144997.7

p.A488A

c.1464G>A

1 paper

NM_144997.7

p.N492N

c.1476C>T

4 papers

NM_144997.7

p.A488V

c.1463C>T

1 paper

NM_144997.7

p.Q493K

c.1477C>A