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.L504F

c.1510C>T

Surrounding Variants

1 paper

NM_144997.7

p.C503C

c.1509C>T

1 paper

NM_144997.7

p.C503*

c.1509C>A

1 paper

NM_144997.7

p.C503F

c.1508G>T

1 paper

NM_144997.7

p.C503S

c.1508G>C

1 paper

NM_144997.7

p.L504L

c.1512C>T

1 paper

NM_144997.7

p.C503S

c.1507T>A

1 paper

NM_144997.7

p.V505F

c.1513G>T

1 paper

NM_144997.7

p.V505I

c.1513G>A

1 paper

NM_144997.7

p.V505fs

c.1513_1514fs

1 paper

NM_144997.7

p.V505delFs

c.1513delC

1 paper

NM_144997.7

p.C506R

c.1516T>C

3 papers

NM_144997.7

p.Q502*

c.1504C>T