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

2 papers

NM_000492.4

p.L100H

c.299T>A

Surrounding Variants

4 papers

NM_000492.4

p.L100V

c.298C>G

5 papers

NM_000492.4

p.L100F

c.298C>T

2 papers

NM_000492.4

p.L100delFs

c.299delT

2 papers

NM_000492.4

p.L100fs

c.298_299fs

2 papers

NM_000492.4

p.L101V

c.301T>G

2 papers

NM_000492.4

p.P99R

c.296C>G

35 papers

NM_000492.4

p.P99L

c.296C>T

10 papers

NM_000492.4

p.L101*

c.302T>A

4 papers

NM_000492.4

p.L101S

c.302T>C

10 papers

NM_000492.4

p.L101*

c.302T>G

2 papers

NM_000492.4

p.L101insFs

c.303dupA

1 paper

NM_000492.4

p.L101delFs

c.303delA