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

2 papers

NM_144997.7

p.Q533H

c.1599G>C

Surrounding Variants

2 papers

NM_144997.7

p.Q533H

c.1599G>T

4 papers

NM_144997.7

p.Q533delFs

c.1597_1598delTG

2 papers

NM_144997.7

p.Q533fs

c.1597_1598fs

5 papers

NM_144997.7

p.Q533*

c.1597C>T

1 paper

NM_144997.7

p.T532P

c.1594A>C

1 paper

NM_144997.7

p.L536V

c.1606C>G

1 paper

NM_144997.7

p.L536M

c.1606C>A

2 papers

NM_144997.7

p.D531delFs

c.1591delC

1 paper

NM_144997.7

p.D531insFs

c.1591_1592insA

1 paper

NM_144997.7

p.E530D

c.1590G>T

1 paper

NM_144997.7

p.E530D

c.1590G>C

1 paper

NM_144997.7

p.S537N

c.1610G>A