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.P988T

c.2962C>A

Surrounding Variants

2 papers

NM_000492.4

p.P988insFs

c.2964dupT

5 papers

NM_000492.4

p.P988R

c.2963C>G

1 paper

NM_000492.4

p.P988P

c.2964T>G

2 papers

NM_000492.4

p.L987insFs

c.2960dupT

5 papers

NM_000492.4

p.L986P

c.2957T>C

2 papers

NM_000492.4

p.L987insFs

c.2959_2960dupCT

2 papers

NM_000492.4

p.L986_L987delFs

c.2958_2961del4

2 papers

NM_000492.4

p.T990A

c.2968A>G

2 papers

NM_000492.4

p.T990S

c.2968A>T

6 papers

NM_000492.4

p.L986delFs

c.2957delT

2 papers

NM_000492.4

p.D985E

c.2955C>A

1 paper

NM_000492.4

p.T990N

c.2969C>A