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.S447insFs

c.1340_1341ins7

Surrounding Variants

1 paper

NM_144997.7

p.R446fs

c.1336_1337fs

1 paper

NM_144997.7

p.R446R

c.1338T>C

1 paper

NM_144997.7

p.T448fs

c.1342_1343fs

1 paper

NM_144997.7

p.S447delFs

c.1341delG

4 papers

NM_144997.7

p.R446H

c.1337G>A

1 paper

NM_144997.7

p.T448I

c.1343C>T

3 papers

NM_144997.7

p.T448delFs

c.1342delT

1 paper

NM_144997.7

p.R446fs

c.1336_1337fs

4 papers

NM_144997.7

p.R446C

c.1336C>T

1 paper

NM_144997.7

p.R446G

c.1336C>G

2 papers

NM_144997.7

p.R446_T448insFs

c.1337_1343dup7

1 paper

NM_144997.7

p.T448T

c.1344C>A