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.R764delFs

c.2291delG

Surrounding Variants

79 papers

NM_000492.4

p.R764*

c.2290C>T

1 paper

NM_000492.4

p.R764_R765del1

c.2291_2293delGAA

1 paper

NM_000492.4

p.R764_R765del2

c.2290_2294del6

1 paper

NM_000492.4

p.A763_R765Fs

c.2289_2295delinsGTFs

4 papers

NM_000492.4

p.R764Q

c.2291G>A

1 paper

NM_000492.4

p.R764P

c.2291G>C

1 paper

NM_000492.4

p.R764delFs

c.2292delA

2 papers

NM_000492.4

p.A763G

c.2288C>G

1 paper

NM_000492.4

p.A763_R765delFs

c.2289_2295del7

3 papers

NM_000492.4

p.R765G

c.2293A>G

3 papers

NM_000492.4

p.A763T

c.2287G>A

2 papers

NM_000492.4

p.R765K

c.2294G>A