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.S257F

c.770C>T

Surrounding Variants

1 paper

NM_144997.7

p.S257C

c.770C>G

1 paper

NM_144997.7

p.S257P

c.769T>C

1 paper

NM_144997.7

p.S257fs

c.769_770fs

1 paper

NM_144997.7

p.F258S

c.773T>C

9 papers

NM_144997.7

p.S257del1

c.769_771delGGA

1 paper

NM_144997.7

p.T256A

c.766A>G

1 paper

NM_144997.7

p.A259T

c.775G>A

19 papers

NM_144997.7

p.H255R

c.764A>G

10 papers

NM_144997.7

p.H255P

c.764A>C

12 papers

NM_144997.7

p.H255Y

c.763C>T

1 paper

NM_144997.7

p.H255N

c.763C>A

1 paper

NM_144997.7

p.W260fs

c.778_779fs