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.M1_Q2insFs

c.3_4insG

Surrounding Variants

14 papers

NM_000492.4

p.M1K

c.2T>A

41 papers

NM_000492.4

p.M1T

c.2T>C

13 papers

NM_000492.4

p.M1R

c.2T>G

46 papers

NM_000492.4

p.M1insFs

c.2_3insA

1 paper

NM_000492.4

p.M1ins2

c.2_3ins6

1 paper

NM_000492.4

p.M1delins

c.2_3delinsAT

3 papers

NM_000492.4

p.M1delFs

c.3delG

1 paper

NM_000492.4

p.M1_Q2Fs

c.2_4delinsGGFs

1 paper

NM_000492.4

p.M1_Q2Fs

c.2_5delinsGGGFs

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