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.L883_L884delFs

c.2647_2650del4

Surrounding Variants

12 papers

NM_000492.4

p.W882*

c.2646G>A

12 papers

NM_000492.4

p.W882*

c.2645G>A

1 paper

NM_000492.4

p.W882fs

c.2644_2645fs

1 paper

NM_000492.4

p.L881L

c.2643G>A

1 paper

NM_000492.4

p.L884fs

c.2650_2651fs

1 paper

NM_000492.4

p.L884F

c.2650C>T

3 papers

NM_000492.4

p.W882insFs

c.2644_2645dupTG

1 paper

NM_000492.4

p.L884P

c.2651T>C

1 paper

NM_000492.4

p.G885A

c.2654G>C

1 paper

NM_000492.4

p.V880L

c.2638G>T

1 paper

NM_000492.4

p.N886fs

c.2656_2657fs

1 paper

NM_000492.4

p.V880insFs

c.2639_2640dupTG