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

90 papers

NM_000492.4

p.L967S

c.2900T>C

Surrounding Variants

1 paper

NM_000492.4

p.L967*

c.2900T>A

2 papers

NM_000492.4

p.L967F

c.2901G>C

2 papers

NM_000492.4

p.L967F

c.2901G>T

2 papers

NM_000492.4

p.L967Fs

c.2899_2900delinsAFs

1 paper

NM_000492.4

p.K968fs

c.2902_2903fs

6 papers

NM_000492.4

p.T966T

c.2898G>A

1 paper

NM_000492.4

p.L967delFs

c.2899delT

1 paper

NM_000492.4

p.K968R

c.2903A>G

1 paper

NM_000492.4

p.T966K

c.2897C>A

5 papers

NM_000492.4

p.T966M

c.2897C>T

12 papers

NM_000492.4

p.T966insFs

c.2896_2897insAG

1 paper

NM_000492.4

p.T966fs

c.2896_2897fs