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

4 papers

NM_000492.4

p.I1109delFs

c.3325delA

Surrounding Variants

1 paper

NM_000492.4

p.I1109V

c.3325A>G

1 paper

NM_000492.4

p.I1109fs

c.3325_3326fs

2 papers

NM_000492.4

p.V1108insFs

c.3323_3324ins16

1 paper

NM_000492.4

p.V1108insFs

c.3323_3324ins16

2 papers

NM_000492.4

p.V1108delFs

c.3324delC

10 papers

NM_000492.4

p.V1108L

c.3322G>C

2 papers

NM_000492.4

p.I1109T

c.3326T>C

1 paper

NM_000492.4

p.I1109S

c.3326T>G

1 paper

NM_000492.4

p.I1109I

c.3327C>A

5 papers

NM_000492.4

p.F1110_A1113del4

c.3328_3338del12

3 papers

NM_000492.4

p.F1107L

c.3321T>A

3 papers

NM_000492.4

p.F1107L

c.3321T>G