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.L230insFs

c.689dupT

Surrounding Variants

1 paper

NM_144997.7

p.L230L

c.690A>C

1 paper

NM_144997.7

p.L230Q

c.689T>A

1 paper

NM_144997.7

p.H231D

c.691C>G

1 paper

NM_144997.7

p.H231R

c.692A>G

1 paper

NM_144997.7

p.L230fs

c.688_689fs

1 paper

NM_144997.7

p.F229F

c.687C>T

1 paper

NM_144997.7

p.F229C

c.686T>G

2 papers

NM_144997.7

p.Q232*

c.694C>T

1 paper

NM_144997.7

p.Q232P

c.695A>C

1 paper

NM_144997.7

p.Q232H

c.696G>T

1 paper

NM_144997.7

p.Q232H

c.696G>C

1 paper

NM_144997.7

p.Q232Q

c.696G>A