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.L129L

c.387T>C

Surrounding Variants

6 papers

NM_000492.4

p.L130V

c.388C>G

2 papers

NM_000492.4

p.L129P

c.386T>C

2 papers

NM_000492.4

p.L129R

c.386T>G

3 papers

NM_000492.4

p.L129delFs

c.387delT

3 papers

NM_000492.4

p.L130P

c.389T>C

1 paper

NM_000492.4

p.C128*

c.384C>A

1 paper

NM_000492.4

p.L130_F131insFs

c.390_391insT

1 paper

NM_000492.4

p.L130L

c.390C>G

1 paper

NM_000492.4

p.C128C

c.384C>T

1 paper

NM_000492.4

p.L130L

c.390C>T

2 papers

NM_000492.4

p.F131delFs

c.393delT

5 papers

NM_000492.4

p.C128S

c.383G>C