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.L127V

c.379T>G

Surrounding Variants

1 paper

NM_000492.4

p.L127L

c.379T>C

2 papers

NM_000492.4

p.L127_C128insFs

c.381_382dupAT

2 papers

NM_000492.4

p.L127*

c.380T>A

1 paper

NM_000492.4

p.L127S

c.380T>C

2 papers

NM_000492.4

p.L127*

c.380T>G

3 papers

NM_000492.4

p.L127_C128insFs

c.381_382insT

46 papers

NM_000492.4

p.G126D

c.377G>A

3 papers

NM_000492.4

p.G126A

c.377G>C

4 papers

NM_000492.4

p.G126V

c.377G>T

10 papers

NM_000492.4

p.G126S

c.376G>A

1 paper

NM_000492.4

p.G126R

c.376G>C

3 papers

NM_000492.4

p.G126C

c.376G>T