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.P472A

c.1414C>G

Surrounding Variants

3 papers

NM_144997.7

p.S469_S471del3

c.1405_1412del9

1 paper

NM_144997.7

p.P472H

c.1415C>A

1 paper

NM_144997.7

p.S471I

c.1412G>T

2 papers

NM_144997.7

p.S471N

c.1412G>A

1 paper

NM_144997.7

p.V473L

c.1417G>T

1 paper

NM_144997.7

p.T468_V473Fs

c.1403_1417delinsAFs

2 papers

NM_144997.7

p.V473A

c.1418T>C

1 paper

NM_144997.7

p.G470V

c.1409G>T

1 paper

NM_144997.7

p.G470E

c.1409G>A

1 paper

NM_144997.7

p.V473V

c.1419A>C

4 papers

NM_144997.7

p.G470_V473delFs

c.1408_1418del11

1 paper

NM_144997.7

p.S459_S469delFs

c.1376_1407del32