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.T460P

c.1378A>C

Surrounding Variants

2 papers

NM_000492.4

p.T460A

c.1378A>G

2 papers

NM_000492.4

p.T460S

c.1378A>T

3 papers

NM_000492.4

p.T460_G461insFs

c.1380_1381insT

2 papers

NM_000492.4

p.T460S

c.1379C>G

1 paper

NM_000492.4

p.S459C

c.1376C>G

3 papers

NM_000492.4

p.S459F

c.1376C>T

7 papers

NM_000492.4

p.G461R

c.1381G>A

7 papers

NM_000492.4

p.G461R

c.1381G>C

2 papers

NM_000492.4

p.G458G

c.1374A>C

2 papers

NM_000492.4

p.S459_A462delFs

c.1375_1385del11

6 papers

NM_000492.4

p.G461E

c.1382G>A

2 papers

NM_000492.4

p.G461V

c.1382G>T