Varaico: Literature-Extracted Genetic Variants

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region

ABC_tranaa 441–576UCSCABC transporter

CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain

ABC_membraneaa 862–1147UCSCABC transporter transmembrane region

ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000492.4

p.L327L

c.979C>T

Surrounding Variants

3 papers

NM_000492.4

p.L327V

c.979C>G

2 papers

NM_000492.4

p.L327delFs

c.980delT

5 papers

NM_000492.4

p.L327P

c.980T>C

14 papers

NM_000492.4

p.L327R

c.980T>G

3 papers

NM_000492.4

p.I328delFs

c.982delA

2 papers

NM_000492.4

p.L327L

c.981A>C

1 paper

NM_000492.4

p.L327L

c.981A>G

14 papers

NM_000492.4

p.A326insFs

c.977_978insA

2 papers

NM_000492.4

p.A326G

c.977C>G

3 papers

NM_000492.4

p.A326V

c.977C>T

2 papers

NM_000492.4

p.I328V

c.982A>G

2 papers

NM_000492.4

p.A326S

c.976G>T