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

2 papers

NM_000492.4

p.L818_E819insFs

c.2454_2455insT

Surrounding Variants

2 papers

NM_000492.4

p.E819_I820insT

c.2455_2459ins3

6 papers

NM_000492.4

p.E819*

c.2455G>T

2 papers

NM_000492.4

p.L818V

c.2452T>G

2 papers

NM_000492.4

p.L818fs

c.2452_2453fs

2 papers

NM_000492.4

p.L818fs

c.2452_2453fs

9 papers

NM_000492.4

p.L818delFs

c.2453delT

2 papers

NM_000492.4

p.I820L

c.2458A>C

3 papers

NM_000492.4

p.I820V

c.2458A>G

2 papers

NM_000492.4

p.I820L

c.2458A>T

8 papers

NM_000492.4

p.G817V

c.2450G>T

1 paper

NM_000492.4

p.I820I

c.2460A>T

1 paper

NM_000492.4

p.G817delFs

c.2450delG