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.Y170Y

c.510C>T

Surrounding Variants

5 papers

NM_144997.7

p.Y170*

c.510C>G

4 papers

NM_144997.7

p.Y170*

c.510C>A

1 paper

NM_144997.7

p.S171R

c.511A>C

1 paper

NM_144997.7

p.S171T

c.512G>C

2 papers

NM_144997.7

p.S171N

c.512G>A

4 papers

NM_144997.7

p.W169*

c.507G>A

1 paper

NM_144997.7

p.S171R

c.513C>G

1 paper

NM_144997.7

p.S171R

c.513C>A

4 papers

NM_144997.7

p.W169*

c.506G>A

1 paper

NM_144997.7

p.I172V

c.514A>G

1 paper

NM_144997.7

p.I172T

c.515T>C

4 papers

NM_144997.7

p.R168H

c.503G>A