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.S240S

c.720G>A

Surrounding Variants

1 paper

NM_144997.7

p.S240S

c.720G>C

1 paper

NM_144997.7

p.S240L

c.719C>T

1 paper

NM_144997.7

p.L241P

c.722T>C

1 paper

NM_144997.7

p.S240P

c.718T>C

1 paper

NM_144997.7

p.R239L

c.716G>T

9 papers

NM_144997.7

p.R239H

c.716G>A

29 papers

NM_144997.7

p.R239C

c.715C>T

2 papers

NM_144997.7

p.T242I

c.725C>T

1 paper

NM_144997.7

p.T242R

c.725C>G

6 papers

NM_144997.7

p.G235_A238del4

c.703_713del12

1 paper

NM_144997.7

p.A238A

c.714C>A

3 papers

NM_144997.7

p.T242T

c.726A>T