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.G330R

c.988G>C

Surrounding Variants

3 papers

NM_000492.4

p.G330R

c.988G>A

1 paper

NM_000492.4

p.G330fs

c.988_989fs

48 papers

NM_000492.4

p.G330*

c.988G>T

1 paper

NM_000492.4

p.G330fs

c.988_989fs

1 paper

NM_000492.4

p.K329K

c.987A>G

3 papers

NM_000492.4

p.G330E

c.989G>A

1 paper

NM_000492.4

p.G330V

c.989G>T

2 papers

NM_000492.4

p.I331_I332delFs

c.991_995del5

2 papers

NM_000492.4

p.K329E

c.985A>G

6 papers

NM_000492.4

p.I331F

c.991A>T

2 papers

NM_000492.4

p.K329*

c.985A>T

4 papers

NM_000492.4

p.K329delFs

c.987delA