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.T296A

c.886A>G

Surrounding Variants

1 paper

NM_000492.4

p.T296Fs

c.887delinsGCTGGGAAGATFs

4 papers

NM_000492.4

p.T296I

c.887C>T

1 paper

NM_000492.4

p.L295L

c.885G>A

1 paper

NM_000492.4

p.L295Q

c.884T>A

1 paper

NM_000492.4

p.L295P

c.884T>C

2 papers

NM_000492.4

p.T296T

c.888T>G

1 paper

NM_000492.4

p.L295M

c.883C>A

1 paper

NM_000492.4

p.L295V

c.883C>G

1 paper

NM_000492.4

p.R297G

c.889C>G

12 papers

NM_000492.4

p.R297W

c.889C>T

2 papers

NM_000492.4

p.L295delFs

c.884delT

1 paper

NM_000492.4

p.L295fs

c.883_884fs