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.K857R

c.2570A>G

Surrounding Variants

1 paper

NM_000492.4

p.K857K

c.2571G>A

1 paper

NM_000492.4

p.K857N

c.2571G>C

1 paper

NM_000492.4

p.K857N

c.2571G>T

2 papers

NM_000492.4

p.S858delFs

c.2573delG

2 papers

NM_000492.4

p.L859_L863delFs

c.2576_2588del13

6 papers

NM_000492.4

p.H856insFs

c.2566_2567insAT

7 papers

NM_000492.4

p.H856insFs

c.2566_2567insT

1 paper

NM_000492.4

p.L859insFs

c.2576_2577insT

1 paper

NM_000492.4

p.L859_L863del5

c.2575_2588del15

2 papers

NM_000492.4

p.L859*

c.2576T>A

1 paper

NM_000492.4

p.V855A

c.2564T>C

2 papers

NM_000492.4

p.L859*

c.2576T>G