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.H784D

c.2350C>G

Surrounding Variants

1 paper

NM_000492.4

p.H784fs

c.2350_2351fs

1 paper

NM_000492.4

p.H784R

c.2351A>G

1 paper

NM_000492.4

p.H784Q

c.2352C>A

1 paper

NM_000492.4

p.H784Q

c.2352C>G

3 papers

NM_000492.4

p.I783S

c.2348T>G

4 papers

NM_000492.4

p.I783_H784insFs

c.2349_2350insT

4 papers

NM_000492.4

p.I783V

c.2347A>G

2 papers

NM_000492.4

p.R785G

c.2353C>G

71 papers

NM_000492.4

p.R785*

c.2353C>T

7 papers

NM_000492.4

p.N782K

c.2346C>A

7 papers

NM_000492.4

p.N782K

c.2346C>G

12 papers

NM_000492.4

p.R785Q

c.2354G>A