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

6 papers

NM_144997.7

p.E434K

c.1300G>A

Surrounding Variants

2 papers

NM_144997.7

p.E434*

c.1300G>T

16 papers

NM_144997.7

p.E434Q

c.1300G>C

1 paper

NM_144997.7

p.S433del1

c.1297_1298delTGA

3 papers

NM_144997.7

p.E434Splc

c.1300+1G>A

1 paper

NM_144997.7

p.I426_E434delFs

c.1276_1300del25

3 papers

NM_144997.7

p.S432_S433delFs

c.1294_1298del5

1 paper

NM_144997.7

p.E434Splc

c.1300+2T>G

2 papers

NM_144997.7

p.E434Splc

c.1300+2T>C

1 paper

NM_144997.7

p.E434Splc

c.1300+4C>T

1 paper

NM_144997.7

p.S432S

c.1296C>T

1 paper

NM_144997.7

p.E434Splc

c.1300+5G>A

1 paper

NM_144997.7

p.S432F

c.1295C>T