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.K508N

c.1524G>T

Surrounding Variants

1 paper

NM_144997.7

p.K508N

c.1524G>C

14 papers

NM_144997.7

p.K508del1

c.1522_1524delCTT

33 papers

NM_144997.7

p.K508R

c.1523A>G

1 paper

NM_144997.7

p.K508fs

c.1522_1523fs

1 paper

NM_144997.7

p.K508*

c.1522A>T

1 paper

NM_144997.7

p.L507L

c.1521C>A

1 paper

NM_144997.7

p.E510*

c.1528G>T

1 paper

NM_144997.7

p.E510K

c.1528G>A

1 paper

NM_144997.7

p.E510fs

c.1528_1529fs

1 paper

NM_144997.7

p.L507F

c.1519C>T

1 paper

NM_144997.7

p.E510D

c.1530G>T

1 paper

NM_144997.7

p.E510D

c.1530G>C