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

2 papers

NM_000492.4

p.S321delFs

c.962delC

Surrounding Variants

3 papers

NM_000492.4

p.S321P

c.961T>C

2 papers

NM_000492.4

p.S321A

c.961T>G

3 papers

NM_000492.4

p.S321fs

c.961_962fs

9 papers

NM_000492.4

p.L320F

c.960A>C

1 paper

NM_000492.4

p.L320L

c.960A>G

10 papers

NM_000492.4

p.L320F

c.960A>T

3 papers

NM_000492.4

p.S321C

c.962C>G

3 papers

NM_000492.4

p.L320*

c.959T>A

1 paper

NM_000492.4

p.L320S

c.959T>C

1 paper

NM_000492.4

p.S321S

c.963T>C

3 papers

NM_000492.4

p.L320*

c.959T>G

9 papers

NM_000492.4

p.L320_S321insFs

c.960_961insA