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

3 papers

NM_000492.4

p.R734G

c.2200A>G

Surrounding Variants

1 paper

NM_000492.4

p.R734*

c.2200A>T

1 paper

NM_000492.4

p.E733E

c.2199G>A

3 papers

NM_000492.4

p.R735delFs

c.2203delA

1 paper

NM_000492.4

p.R735_L736delFs

c.2203_2207del5

2 papers

NM_000492.4

p.R735fs

c.2203_2204fs

2 papers

NM_000492.4

p.R735K

c.2204G>A

3 papers

NM_000492.4

p.R735S

c.2205G>C

3 papers

NM_000492.4

p.R735S

c.2205G>T

49 papers

NM_000492.4

p.L732*

c.2195T>A

49 papers

NM_000492.4

p.L732*

c.2195T>G

2 papers

NM_000492.4

p.L732V

c.2194T>G

2 papers

NM_000492.4

p.P731R

c.2192C>G