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.R1030insFs

c.3089_3090insTC

Surrounding Variants

2 papers

NM_000492.4

p.R1030*

c.3088A>T

1 paper

NM_000492.4

p.A1031P

c.3091G>C

1 paper

NM_000492.4

p.A1031S

c.3091G>T

2 papers

NM_000492.4

p.A1031V

c.3092C>T

3 papers

NM_000492.4

p.L1029M

c.3085T>A

17 papers

NM_000492.4

p.M1028I

c.3084G>A

17 papers

NM_000492.4

p.M1028I

c.3084G>C

17 papers

NM_000492.4

p.M1028I

c.3084G>T

1 paper

NM_000492.4

p.M1028_R1030Fs

c.3084_3088delinsATGFs

4 papers

NM_000492.4

p.Y1032N

c.3094T>A

2 papers

NM_000492.4

p.Y1032insFs

c.3095_3096insT

44 papers

NM_000492.4

p.Y1032C

c.3095A>G