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.G239_L240insFs

c.717_718ins8

Surrounding Variants

2 papers

NM_000492.4

p.G239E

c.716G>A

1 paper

NM_000492.4

p.G239V

c.716G>T

15 papers

NM_000492.4

p.G239R

c.715G>A

15 papers

NM_000492.4

p.G239R

c.715G>C

1 paper

NM_000492.4

p.G239G

c.717G>T

1 paper

NM_000492.4

p.L240fs

c.718_719fs

2 papers

NM_000492.4

p.L240V

c.718C>G

6 papers

NM_000492.4

p.G239delFs

c.717delG

2 papers

NM_000492.4

p.A238D

c.713C>A

2 papers

NM_000492.4

p.A238insFs

c.713_714insA

20 papers

NM_000492.4

p.A238V

c.713C>T

3 papers

NM_000492.4

p.A238delFs

c.714delT