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.V956delFs

c.2868delT

Surrounding Variants

1 paper

NM_000492.4

p.S955S

c.2865T>G

4 papers

NM_000492.4

p.S955C

c.2864C>G

2 papers

NM_000492.4

p.S955F

c.2864C>T

1 paper

NM_000492.4

p.L957delFs

c.2869delC

52 papers

NM_000492.4

p.L957insFs

c.2869_2870insG

1 paper

NM_000492.4

p.L957fs

c.2869_2870fs

4 papers

NM_000492.4

p.S955P

c.2863T>C

3 papers

NM_000492.4

p.S955A

c.2863T>G

1 paper

NM_000492.4

p.H954insFs

c.2862dupT

6 papers

NM_000492.4

p.H954P

c.2861A>C

1 paper

NM_000492.4

p.L957L

c.2871T>A

1 paper

NM_000492.4

p.Q958K

c.2872C>A