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.A234T

c.700G>A

Surrounding Variants

3 papers

NM_000492.4

p.A234S

c.700G>T

17 papers

NM_000492.4

p.A234D

c.701C>A

4 papers

NM_000492.4

p.A234V

c.701C>T

1 paper

NM_000492.4

p.A234A

c.702C>A

1 paper

NM_000492.4

p.L233P

c.698T>C

2 papers

NM_000492.4

p.L233_A234insT

c.697_701ins3

5 papers

NM_000492.4

p.F236insFs

c.708dupT

6 papers

NM_000492.4

p.L233V

c.697C>G

3 papers

NM_000492.4

p.L235V

c.703C>G

7 papers

NM_000492.4

p.L233F

c.697C>T

4 papers

NM_000492.4

p.F236delFs

c.708delT

1 paper

NM_000492.4

p.L233delFs

c.698delT