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.F994L

c.2980T>C

Surrounding Variants

12 papers

NM_000492.4

p.F994C

c.2981T>G

7 papers

NM_000492.4

p.D993A

c.2978A>C

4 papers

NM_000492.4

p.D993G

c.2978A>G

4 papers

NM_000492.4

p.F994L

c.2982C>A

4 papers

NM_000492.4

p.F994L

c.2982C>G

1 paper

NM_000492.4

p.I995L

c.2983A>C

1 paper

NM_000492.4

p.I995F

c.2983A>T

1 paper

NM_000492.4

p.D993N

c.2977G>A

15 papers

NM_000492.4

p.D993Y

c.2977G>T

4 papers

NM_000492.4

p.F992L

c.2976T>A

1 paper

NM_000492.4

p.I995N

c.2984T>A

4 papers

NM_000492.4

p.F992L

c.2976T>G