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

2 papers

NM_144997.7

p.Q458R

c.1373A>G

Surrounding Variants

2 papers

NM_144997.7

p.Q458insFs

c.1372dupC

1 paper

NM_144997.7

p.Q458fs

c.1372_1373fs

1 paper

NM_144997.7

p.Q458fs

c.1372_1373fs

1 paper

NM_144997.7

p.Q458*

c.1372C>T

1 paper

NM_144997.7

p.S459A

c.1375T>G

1 paper

NM_144997.7

p.S459F

c.1376C>T

4 papers

NM_144997.7

p.L460fs

c.1378_1379fs

1 paper

NM_144997.7

p.D456G

c.1367A>G

1 paper

NM_144997.7

p.D456fs

c.1366_1367fs

1 paper

NM_144997.7

p.D456Y

c.1366G>T

1 paper

NM_144997.7

p.D456H

c.1366G>C

1 paper

NM_144997.7

p.D456N

c.1366G>A