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

5 papers

NM_000492.4

p.R658insFs

c.1972dupA

Surrounding Variants

2 papers

NM_000492.4

p.R657K

c.1970G>A

2 papers

NM_000492.4

p.R657*

c.1969A>T

4 papers

NM_000492.4

p.R657delFs

c.1970delG

2 papers

NM_000492.4

p.R658fs

c.1972_1973fs

3 papers

NM_000492.4

p.R658fs

c.1972_1973fs

1 paper

NM_000492.4

p.R658_L662delFs

c.1973_1985del13

1 paper

NM_000492.4

p.E656A

c.1967A>C

2 papers

NM_000492.4

p.E656G

c.1967A>G

5 papers

NM_000492.4

p.N659delFs

c.1976delA

1 paper

NM_000492.4

p.R658_L662delins

c.1973_1985delinsA

9 papers

NM_000492.4

p.R658_L662Fs

c.1973_1985delinsAGAAAFs

2 papers

NM_000492.4

p.R658S

c.1974A>C