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.V500G

c.1499T>G

Surrounding Variants

1 paper

NM_144997.7

p.V500E

c.1499T>A

1 paper

NM_144997.7

p.D501Y

c.1501G>T

3 papers

NM_144997.7

p.V499insFs

c.1495_1496insTC

1 paper

NM_144997.7

p.V499_V500ins10

c.1495_1499ins30

1 paper

NM_144997.7

p.D501D

c.1503C>T

3 papers

NM_144997.7

p.Q502*

c.1504C>T

1 paper

NM_144997.7

p.D498Y

c.1492G>T

2 papers

NM_144997.7

p.V497delFs

c.1489_1490delAC

1 paper

NM_144997.7

p.C503S

c.1507T>A

3 papers

NM_144997.7

p.S496_V497insFs

c.1487_1490dup4

1 paper

NM_144997.7

p.V497insFs

c.1490_1491ins4

1 paper

NM_144997.7

p.C503F

c.1508G>T