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

4 papers

NM_000492.4

p.D192Y

c.574G>T

Surrounding Variants

13 papers

NM_000492.4

p.D192N

c.574G>A

2 papers

NM_000492.4

p.D192H

c.574G>C

40 papers

NM_000492.4

p.D192G

c.575A>G

4 papers

NM_000492.4

p.D192V

c.575A>T

2 papers

NM_000492.4

p.D192delFs

c.576delT

1 paper

NM_000492.4

p.F191L

c.573T>A

1 paper

NM_000492.4

p.F191L

c.573T>G

2 papers

NM_000492.4

p.F191C

c.572T>G

3 papers

NM_000492.4

p.D192del1

c.574_575delGAT

77 papers

NM_000492.4

p.E193K

c.577G>A

30 papers

NM_000492.4

p.E193*

c.577G>T

1 paper

NM_000492.4

p.F191L

c.571T>C