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

41 papers

NM_000492.4

p.M1insFs

c.2dupT

Surrounding Variants

1 paper

NM_000492.4

p.M1insFs

c.1_2insG

1 paper

NM_000492.4

p.M1fs

c.1_2fs

3 papers

NM_000492.4

p.M1_Q2insG

c.1_5ins3

7 papers

NM_000492.4

p.M1L

c.1A>C

46 papers

NM_000492.4

p.M1V

c.1A>G

6 papers

NM_000492.4

p.M1L

c.1A>T

2 papers

NM_000492.4

p.M1Fs

c.1delinsTTFs

3 papers

NM_000492.4

p.M1delFs

c.2delT

2 papers

NM_000492.4

p.M1insFs

c.1_2insA

2 papers

NM_000492.4

p.M1insFs

c.1_2ins5

1 paper

NM_000492.4

p.M1delFs

c.1_2delAT

1 paper

NM_000492.4

p.M1_R3delFs

c.1_7del7