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.S407insFs

c.1219dupA

Surrounding Variants

2 papers

NM_144997.7

p.S407delFs

c.1219delT

1 paper

NM_144997.7

p.S407R

c.1221C>G

1 paper

NM_144997.7

p.S407fs

c.1219_1220fs

1 paper

NM_144997.7

p.S407C

c.1219A>T

1 paper

NM_144997.7

p.S407G

c.1219A>G

1 paper

NM_144997.7

p.Q408*

c.1222C>T

1 paper

NM_144997.7

p.S406N

c.1217G>A

1 paper

NM_144997.7

p.Q408H

c.1224G>T

1 paper

NM_144997.7

p.Q408H

c.1224G>C

3 papers

NM_144997.7

p.S406G

c.1216A>G

5 papers

NM_144997.7

p.Y405*

c.1215C>G

4 papers

NM_144997.7

p.Y405*

c.1215C>A