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.L1254delFs

c.3760_3761delTT

Surrounding Variants

1 paper

NM_000492.4

p.L1253L

c.3759G>A

2 papers

NM_000492.4

p.L1253*

c.3758T>A

1 paper

NM_000492.4

p.L1253S

c.3758T>C

26 papers

NM_000492.4

p.L1254*

c.3761T>A

1 paper

NM_000492.4

p.L1253L

c.3757T>C

26 papers

NM_000492.4

p.L1254*

c.3761T>G

1 paper

NM_000492.4

p.S1255del1

c.3763_3764delTCA

1 paper

NM_000492.4

p.L1254F

c.3762A>C

1 paper

NM_000492.4

p.L1254L

c.3762A>G

1 paper

NM_000492.4

p.L1254F

c.3762A>T

3 papers

NM_000492.4

p.L1253insFs

c.3758dupT

206 papers

NM_000492.4

p.S1255P

c.3763T>C