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

77 papers

NM_144997.7

p.H429delFs

c.1285delG

Surrounding Variants

3 papers

NM_144997.7

p.H429P

c.1286A>C

151 papers

NM_144997.7

p.H429insFs

c.1285dupC

5 papers

NM_144997.7

p.H429Y

c.1285C>T

3 papers

NM_144997.7

p.H429H

c.1287C>T

1 paper

NM_144997.7

p.H429Q

c.1287C>G

1 paper

NM_144997.7

p.H429D

c.1285C>G

41 papers

NM_144997.7

p.H429fs

c.1285_1286fs

5 papers

NM_144997.7

p.H429insFs

c.1286dupA

1 paper

NM_144997.7

p.H429Q

c.1287C>A

1 paper

NM_144997.7

p.H429N

c.1285C>A

59 papers

NM_144997.7

p.H429fs

c.1285_1286fs

1 paper

NM_144997.7

p.P428P

c.1284C>G