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

3 papers

NM_000492.4

p.F78L

c.234C>A

Surrounding Variants

1 paper

NM_000492.4

p.F78_W79insFs

c.234_235insT

3 papers

NM_000492.4

p.F78L

c.234C>G

2 papers

NM_000492.4

p.F78F

c.234C>T

7 papers

NM_000492.4

p.W79R

c.235T>A

2 papers

NM_000492.4

p.F78Y

c.233T>A

7 papers

NM_000492.4

p.W79R

c.235T>C

1 paper

NM_000492.4

p.F78S

c.233T>C

3 papers

NM_000492.4

p.F78insFs

c.234dupC

1 paper

NM_000492.4

p.W79fs

c.235_236fs

3 papers

NM_000492.4

p.F78delFs

c.234delC

7 papers

NM_000492.4

p.W79fs

c.235_236fs

7 papers

NM_000492.4

p.W79*

c.236G>A