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.R297R

c.891G>T

Surrounding Variants

2 papers

NM_000492.4

p.R297R

c.891G>A

3 papers

NM_000492.4

p.K298delFs

c.892delA

70 papers

NM_000492.4

p.R297Q

c.890G>A

1 paper

NM_000492.4

p.R297P

c.890G>C

2 papers

NM_000492.4

p.A299delFs

c.895delG

1 paper

NM_000492.4

p.R297G

c.889C>G

12 papers

NM_000492.4

p.R297W

c.889C>T

1 paper

NM_000492.4

p.K298N

c.894G>T

1 paper

NM_000492.4

p.A299_A300del2

c.895_899del6

2 papers

NM_000492.4

p.T296T

c.888T>G

1 paper

NM_000492.4

p.T296Fs

c.887delinsGCTGGGAAGATFs

4 papers

NM_000492.4

p.T296I

c.887C>T